Anlage zur Akkreditierungsurkunde D-ML nach DIN EN ISO 15189:2014

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3 Deutsche Akkreditierungsstelle GmbH nach DIN EN ISO 15189:2014 Entfristet am: Urkundeninhaber: Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ) Dr. Klein, Dr. Rost und Kollegen Lochhamer Str. 29, Martinsried Untersuchungen im Bereich: Medizinische Laboratoriumsdiagnostik Untersuchungsgebiete: Klinische Chemie Immunologie Humangenetik (Molekulare Humangenetik, Zytogenetik) Mikrobiologie Virologie Transfusionsmedizin Innerhalb der mit * gekennzeichneten Untersuchungsbereiche ist dem Laboratorium, ohne dass es einer vorherigen Information und Zustimmung der Deutschen Akkreditierungsstelle GmbH bedarf, die freie Auswahl von genormten oder ihnen gleichzusetzenden Untersuchungsverfahren gestattet. Innerhalb der mit ** gekennzeichneten Untersuchungsbereiche ist dem Laboratorium, ohne dass es einer vorherigen Information und Zustimmung der Deutschen Akkreditierungsstelle GmbH bedarf, die Modifizierung sowie Weiter- und Neuentwicklung von Untersuchungsverfahren gestattet. Die aufgeführten Untersuchungsverfahren sind beispielhaft. Das Laboratorium verfügt über eine aktuelle Liste aller Untersuchungsverfahren im flexiblen Akkreditierungsbereich. Die Urkunde samt Urkundenanlage gibt den Stand zum Zeitpunkt des Ausstellungsdatums wieder. Der jeweils aktuelle Stand des Geltungsbereiches der Akkreditierung ist der Datenbank akkreditierter Stellen der Deutschen Akkreditierungsstelle GmbH (DAkkS) zu entnehmen. Seite 1 von 213

4 Untersuchungsgebiet: Klinische Chemie Untersuchungsart: Chromatographie (Flüssigkeitschromatographie (LC-MS))** Analyt (Messgröße) Homocystein Natriumfluorid-Plasma LC-MS-MS Untersuchungsart: Chromatographie (Hochleistungsflüssigkeitschromatographie (HPLC)) Analyt (Messgröße) HB-Varianten EDTA-Blut, Nabelschnurblut HPLC-DAD Untersuchungsart: Durchflusszytometrie (Partikeleigenschaftsbestimmungen)* Analyt (Messgröße) Kleines Blutbild EDTA-Blut Partikelzählung, Partikelgrößenbestimmung, Bestimmung zytochemischzytometrischer Merkmale Großes Blutbild EDTA-Blut Partikelzählung, Partikelgrößenbestimmung, Bestimmung zytochemischzytometrischer Merkmale Retikulozyten EDTA-Blut Bestimmung zytochemischzytometrischer Merkmale Untersuchungsart: Elektrophorese* Analyt (Messgröße) Serumeiweiß Serum Kapillarelektrophorese Monoklonale Gammopathie Serum Kapillarelektrophorese ACHE Fruchtwasser Elektrophorese Untersuchungsart: Elektrochemische Untersuchungen* Analyt (Messgröße) Natrium Serum, Plasma ISE Kalium Serum, Plasma ISE Chlorid Serum, Plasma ISE Entfristet am: Seite 2 von 213

5 Untersuchungsart: Koagulometrie* Analyt (Messgröße) Antithrombin III Citratplasma optische Detektionsverfahren APC-Resistenz Citratplasma optische Detektionsverfahren D-Dimer Citratplasma optische Detektionsverfahren Faktor 12 Citratplasma optische Detektionsverfahren Fibrinogen Citratplasma optische Detektionsverfahren INR Citratplasma optische Detektionsverfahren Lupus Antikoagulans Citratplasma optische Detektionsverfahren Protein C Citratplasma optische Detektionsverfahren Protein S Citratplasma optische Detektionsverfahren Thromboplastinzeit Citratplasma optische Detektionsverfahren Partielle Thromboplastinzeit Citratplasma optische Detektionsverfahren Untersuchungsart: Ligandenassays* Analyt (Messgröße) AFP Fruchtwasser Immunometrie (CLIA) Freies Beta-HCG Serum Immunometrie (CLIA) PAPP-A Serum Immunometrie (CLIA) sfit I Serum, Plasma Immunometrie (CLIA) PIGF Serum, Plasma Immunometrie (CLIA) AFP Serum, Plasma ECLIA CA 125 Serum, Plasma ECLIA CA 15-3 Serum, Plasma ECLIA CA 19-9 Serum, Plasma ECLIA CEA Serum, Plasma ECLIA Cortisol Serum, Plasma ECLIA DHEA-S Serum, Plasma ECLIA Folsäure Serum, Plasma ECLIA FSH Serum, Plasma ECLIA FT3 Serum, Plasma ECLIA FT4 Serum, Plasma ECLIA Entfristet am: Seite 3 von 213

6 Analyt (Messgröße) Beta-HCG Serum, Plasma ECLIA LH Serum, Plasma ECLIA Östradiol Serum, Plasma ECLIA Progesteron Serum, Plasma ECLIA Prolaktin Serum, Plasma ECLIA PSA Serum, Plasma ECLIA SHBG Serum, Plasma ECLIA Testosteron Serum, Plasma ECLIA Troponin T Serum, Plasma ECLIA TSH Serum, Plasma ECLIA Vitamin B12 Serum, Plasma ECLIA Vitamin D Serum, Plasma ECLIA Untersuchungsart: Mikroskopie* Analyt (Messgröße) atypische Lymphozten Vollblut Hellfeldmikroskopie nach Anfärbung mittels Farbstoffen Basophile Granulozyten Vollblut Hellfeldmikroskopie nach Anfärbung mittels Farbstoffen Blasten Vollblut Hellfeldmikroskopie nach Anfärbung mittels Farbstoffen Eosinophile Granulozyten Vollblut Hellfeldmikroskopie nach Anfärbung mittels Farbstoffen Kernschatten Vollblut Hellfeldmikroskopie nach Anfärbung mittels Farbstoffen Lymphozyten Vollblut Hellfeldmikroskopie nach Anfärbung mittels Farbstoffen Metamyelozyten Vollblut Hellfeldmikroskopie nach Anfärbung mittels Farbstoffen Monozyten Vollblut Hellfeldmikroskopie nach Anfärbung mittels Farbstoffen Morphologie Erythrozyten Vollblut Hellfeldmikroskopie nach Anfärbung mittels Farbstoffen Morphologie Leukozyten Vollblut Hellfeldmikroskopie nach Anfärbung mittels Farbstoffen Morphologie Thrombozyten Vollblut Hellfeldmikroskopie nach Anfärbung mittels Farbstoffen Myelozyten Vollblut Hellfeldmikroskopie nach Anfärbung mittels Farbstoffen Normoblasten Vollblut Hellfeldmikroskopie nach Anfärbung mittels Farbstoffen Plasmazellen Vollblut Hellfeldmikroskopie nach Anfärbung mittels Farbstoffen Entfristet am: Seite 4 von 213

7 Analyt (Messgröße) Promyelozyten Vollblut Hellfeldmikroskopie nach Anfärbung mittels Farbstoffen Segmentkernige Granulozyten Vollblut Hellfeldmikroskopie nach Anfärbung mittels Farbstoffen Stabkernige Granulozyten Vollblut Hellfeldmikroskopie nach Anfärbung mittels Farbstoffen Bakterien Urin, Urinsediment Hellfeldmikroskopie Erythrozyten Urin, Urinsediment Hellfeldmikroskopie Erythrozytenzylinder Urin, Urinsediment Hellfeldmikroskopie Granulierte Zylinder Urin, Urinsediment Hellfeldmikroskopie Hyaline Zylinder Urin, Urinsediment Hellfeldmikroskopie Leukozyten Urin, Urinsediment Hellfeldmikroskopie Leukozytenzylinder Urin, Urinsediment Hellfeldmikroskopie Pilze Urin, Urinsediment Hellfeldmikroskopie Plattenepithelien Urin, Urinsediment Hellfeldmikroskopie Rundepithelien Urin, Urinsediment Hellfeldmikroskopie Übergangsepithelien Urin, Urinsediment Hellfeldmikroskopie Wachszylinder Urin, Urinsediment Hellfeldmikroskopie Untersuchungsart: Qualitative Untersuchungen (einfache) mit visueller Auswertung* Analyt (Messgröße) Bilirubin Urin Teststreifen Glucose Urin Teststreifen Hämoglobin/Erythrozyten Urin Teststreifen Ketone Urin Teststreifen Leukozyten Urin Teststreifen Nitrit Urin Teststreifen ph Urin Teststreifen Proteine Urin Teststreifen Urobilinogen Urin Teststreifen Untersuchungsart: Spektrometrie (Turbidimetrie)* Analyt (Messgröße) alpha 1 Antitrypsin Serum, Plasma Turbidimetrie Beta-2-Mikroglobulin Serum, Plasma Turbidimetrie C-reaktives Protein Serum, Plasma Turbidimetrie Coeruloplasmin Serum, Plasma Turbidimetrie Ferritin Serum, Plasma Turbidimetrie Entfristet am: Seite 5 von 213

8 Analyt (Messgröße) Haptoglobin Serum, Plasma Turbidimetrie HbA1c EDTA-Blut Turbidimetrie Transferrin Serum, Plasma Turbidimetrie Untersuchungsart: Spektrometrie (Absorptionsspektrometrie / Photometrie)* Analyt (Messgröße) Albumin Serum, Plasma Photometrie Alkalische Phosphatase Serum, Plasma Photometrie Amylase Serum, Plasma Photometrie Bilirubin, direkt Serum, Plasma Photometrie Bilirubin, gesamt Serum, Plasma Photometrie Calcium Serum, Plasma Photometrie CHE Serum, Plasma Photometrie Cholesterin Serum, Plasma Photometrie CK Serum, Plasma Photometrie CK-MB Serum, Plasma Photometrie Eisen Serum, Plasma Photometrie Eiweiß, gesamt Serum, Plasma Photometrie Eiweiß Urin Photometrie Gallensäure Serum, Plasma Photometrie GGT Serum, Plasma Photometrie GOT (AST) Serum, Plasma Photometrie GPT (ALT) Serum, Plasma Photometrie Glucose Serum, Plasma, Hämolysat Photometrie Harnsäure Serum, Plasma Photometrie Harnstoff Serum, Plasma Photometrie HDL Cholesterin Serum, Plasma Photometrie Kreatinin Serum, Plasma, Urin Photometrie LDH Serum, Plasma Photometrie LDL Serum, Plasma Photometrie Lipase Serum, Plasma Photometrie Magnesium Serum, Plasma Photometrie Phosphat Serum, Plasma Photometrie Triglyceride Serum, Plasma Photometrie Entfristet am: Seite 6 von 213

9 Untersuchungsgebiet: Immunologie Untersuchungsart: Durchflusszytometrie** Analyt (Messgröße) Lymphozytentypisierung CPDA1-Blut, EDTA-Blut Durchflusszytometrie CD34-Stammzellmessung Nabelschnurblut, EDTA-Blut, Durchflusszytometrie Untersuchungsart: Ligandenassays* Analyt (Messgröße) Antigen der Mikrosomenfraktion aus Leber und Niere (LKM-1) Serum, EDTA-, Heparin- oder Citrat- Plasma Antikörper gegen Gliadin (IgA) Vollblut-Serum, Plasma ELISA Antikörper gegen Gliadin (IgG) Vollblut-Serum, Plasma ELISA Antimitochondriale Antikörper gegen den Pyruvatdehydrogenase Komplex (AMA-M2) Autoantikörper gegen Annexin V (IgM) Autoantikörper gegen Cardiolipin (Ig G) Autoantikörper gegen Cardiolipin (Ig M) Autoantikörper gegen Schilddrüsen-Peroxidase (MAK) Autoantikörper gegen Thyreoglobulin (TAK) Autoantikörper gegen β-2 Glykoprotein (Ig G, A, M) Serum, EDTA-, Heparin- oder Citrat- Plasma Vollblut-Serum, Plasma Vollblut-Serum, Plasma Vollblut-Serum, Plasma Vollblut-Serum, Plasma Vollblut-Serum, Plasma Vollblut-Serum, Plasma Autoantikörper gegen Annexin V (IgG) Vollblut-Serum, Plasma Immunoblot (Teststreifen) Immunoblot (Teststreifen) ELISA ELISA ELISA ELISA ELISA ELISA ELISA Autoantikörper gegen ENA Vollblut-Serum, Plasma ELISA Autoantikörper gegen Gewebstransglutaminase (IgA) Autoantikörper gegen Gewebstransglutaminase (IgG) Vollblut-Serum, Plasma Vollblut-Serum, Plasma ELISA ELISA Autoantikörper gegen ddns Vollblut-Serum, Plasma ELISA Entfristet am: Seite 7 von 213

10 Analyt (Messgröße) Cytosolisches Leber-Antigen Typ 1 (LC- 1) Fusionsprotein der E2-Untereinheiten der alpha-ketosäure-dehydrogenasen der inneren Mitochondrienmembran (M2-3E(BPO)) Lösliches Leber-Antigen/Leber- Pankreas Antigen (SLA/LP) Serum, EDTA-, Heparin- oder Citrat- Plasma Serum, EDTA-, Heparin- oder Citrat- Plasma Serum, EDTA-, Heparin- oder Citrat- Plasma MAK Serum, Plasma ECLIA TAK Serum, Plasma ECLIA Immunoblot (Teststreifen) Immunoblot (Teststreifen) Immunoblot (Teststreifen) Untersuchungsart: Mikroskopie* Analyt (Messgröße) Autoantikörper gegen Zellkerne (ANA) Vollblut-Serum, Plasma Indirekte Immunfluoreszenzmikroskopie Autoantikörper gegen ddns Vollblut-Serum, Plasma Indirekte Immunfluoreszenzmikroskopie Autoantikörper gegen Ovar Vollblut-Serum, Plasma Indirekte Immunfluoreszenzmikroskopie Antimitochondriale Antikörper (AMA) Vollblut-Serum, Plasma Antineutrophile cytoplasmatische Antikörper (ANCA) Antikörper gegen glatte Muskulatur (ASMA) Antigen der Mikrosomenfraktion aus Leber und Niere (LKM-1) Vollblut-Serum, Plasma Vollblut-Serum, Plasma Vollblut-Serum, Plasma Indirekte Immunfluoreszenzmikroskopie Indirekte Immunfluoreszenzmikroskopie Indirekte Immunfluoreszenzmikroskopie Indirekte Immunfluoreszenzmikroskopie Untersuchungsart: Spektrometrie (Turbidimetrie)* Analyt (Messgröße) freie Leichtketten Kappa Serum, Plasma Turbidimetrie freie Leichtketten Lambda Serum, Plasma Turbidimetrie Ig A Serum, Plasma Turbidimetrie Ig G Serum, Plasma Turbidimetrie IgM Serum, Plasma Turbidimetrie Rheumafaktor Serum, Plasma Turbidimetrie Entfristet am: Seite 8 von 213

11 Untersuchungsgebiet: Humangenetik (Zytogenetik) Untersuchungsart: Chromosomenanalyse** Analyt (Messgröße) Chromosomenanalyse Nachweis spezifischer chromosomaler Regionen Chronisch myeloische Leukämie Peripheres Blut, Fruchtwasser, Chorionzotten, Abortgewebe, Nabelschnurblut, Haut, Knochenmark Peripheres Blut, Fruchtwasser, Chorionzotten, Abortgewebe, Nabelschnurblut, Haut, Knochenmark Blut, Knochenmark Karyotypisierung, Färbungen, Zellkultur, Mosaikausschluss, Vielfarbenkaryotypisierung Fluoreszenz in situ Hybridisierung (FISH): Pränataler Schnelltest, Mikrodeletionsdiagnostik, Chromosomenpainting, Subtelomeranalysen, Interphase- Untersuchungen FISH und Chromosomenanalyse Myelodysplastisches Syndrom Blut, Knochenmark FISH und Chromosomenanalyse Myeloproliferative Neoplasien Blut, Knochenmark FISH und Chromosomenanalyse Chronisch Lymphatische Leukämie Blut, Knochenmark FISH und Chromosomenanalyse Akute Lymphatische Leukämie Blut, Knochenmark FISH und Chromosomenanalyse Akute Myeloische Leukämie Blut, Knochenmark FISH und Chromosomenanalyse Indolente B-Zell-Lymphome Blut, Knochenmark FISH und Chromosomenanalyse Chronische myelomonozytäre Leukämie Myeloische und lymphatische Neoplasien mit Eosinophilie und PDGFRA-, PDGFRB-, FGFR1- oder PCM1-JAK2-Rearrangement Monoklonale Gammopathie, Plasmozytom, MGUS Blut, Knochenmark Blut, Knochenmark Blut, Knochenmark Immunozytom, Morbus Waldenström Blut, Knochenmark FISH und Chromosomenanalyse FISH und Chromosomenanalyse FISH und Chromosomenanalyse FISH und Chromosomenanalyse Array-CGH Genomische DNA Array basierte CGH Entfristet am: Seite 9 von 213

12 Untersuchungsgebiet: Humangenetik (Molekulare Humangenetik) Untersuchungsart: Molekularbiologische Untersuchungen (Amplifikations- und Hybridisierungsverfahren)** ABCB1 (MDR1) (dbsnp rs ) PCR, Restriktionsanalyse Alkohol-Intoleranz (ADH2-Gen:dbSNP rs , ALDH2- Gen:dbSNP rs671) Alpha-1-Antitrypsin-Mangel (SERPINA1-Gen:dbSNP rs17580, rs ) Alzheimer Erkrankung, Spätform (AD2) (APOE-Gen: dbsnp rs429358, rs7412) Apolipoprotein B-Defizienz (FLDB) (APOB-Gen: dbsnp rs ) Apolipoprotein B-Defizienz (FLDB) (APOB-Gen: dbsnp rs ) Azoospermie (AZF-Mikrodeletionen) Fluoreszenz-markierte Hybridisierungssonden (Real-time PCR) Fluoreszenz-markierte Hybridisierungssonden (Real-time PCR) PCR, Restriktionsanalyse Fluoreszenz-markierte Hybridisierungssonden (Real-time PCR) PCR, Agarosegelelektrophorese COMT (dbsnp rs4680) PCR, Restriktionsanalyse Creutzfeldt-Jakob (sporadische Form neue Variante) (PRNP-Gen: dbsnp rs ) Crouzon-Syndrom mit Acanthosis nigricans (FGFR3-Gen: NM_ :c.1172C>A) CYP1A1 (dbsnp rs , rs ) PCR, Restriktionsanalyse PCR, Restriktionsanalyse CYP2B6 (dbsnp rs ) CYP2C19 (dbsnp rs ) CYP2C19 (dbsnp rs , rs ) CYP2C8 (dbsnp rs , rs ) CYP2C9 (dbsnp rs , rs ) Fluoreszenz-markierte Hybridisierungssonden (Real-time PCR) Fluoreszenz-markierte Hybridisierungssonden (Real-time PCR) CYP3A5 (dbsnp rs776746) Entfristet am: Seite 10 von 213

13 DPD (dbsnp rs ) PCR, Restriktionsanalyse Dysbetalipoproteinämie, Typ III- Hyperlipidämie (APOE-Gen: dbsnp rs429358, rs7412) Fluoreszenz-markierte Hybridisierungssonden (Real-time PCR) GSTM1 (Null-Allel) PCR, Agarosegelelektrophorese GSTP1 (dbsnp rs1695) PCR, Restriktionsanalyse GSTT1 (Null-Allel) PCR, Agarosegelelektrophorese Hämochromatose (HFE-Gen: dbsnp rs , rs , rs ) HCV-Therapie IL28B (dbsnp rs ) HCV-Therapie ITPA (dbsnp rs , rs ) HIV-1-Wirtsresistenz (CCR5-Gen: dbsnp rs333, CCR2-Gen: dbsnp rs , SDF1-Gen: dbsnp rs ) Hörverlust, rezessiv (GJB6-Gen (Deletion D13S1830)) Fluoreszenz-markierte Hybridisierungssonden (Real-time PCR) Fluoreszenz-markierte Hybridisierungssonden (Real-time PCR) PCR, Restriktionsanalyse PCR, Agarosegelelektrophorese IL4R (dbsnp rs ) Laktoseintoleranz (LCT-Gen: dbsnp rs182549) Makuladegeneration, altersbedingt (ARMD4) (CFH-Gen: dbsnp rs ) Makuladegeneration, altersbedingt (ARMD7) (HTRA1-Gen: dbsnp rs ) Methylentetrahydrofolatreduktase- (MTHFR-) Defizienz (MTHFR-Gen: dbsnp rs , rs ) Meulengracht- (Gilbert-) Syndrom (UGT1A1-Gen: dbsnp rs ) Morbus Crohn (NOD2-Gen: dbsnp rs , rs , rs ) Muenke-Syndrom (FGFR3-Gen: NM_ :c.749C>G) Fluoreszenz-markierte Hybridisierungssonden (Real-time PCR) PCR, Restriktionsanalyse PCR, Restriktionsanalyse Fluoreszenz-markierte Hybridisierungssonden (Real-time PCR) Entfristet am: Seite 11 von 213

14 Osteoporose, postmenopausale Form (COL1A1-Gen: dbsnp rs ) Ovarielles Hyperstimulationssyndrom (OHSS) (FSHR-Gen: dbsnp rs6166) Sichelzellanämie (SA) (HBB-Gen: NM_ :c.20A>T) PCR, Restriktionsanalyse SLCO1B1 (dbsnp rs ) SULT1A1 (dbsnp rs ) PCR, Restriktionsanalyse Thrombophilie (F5-Gen: dbsnp rs6025, F2-Gen: dbsnp rs ) TNF-α-Promotor (dbsnp rs361525, rs , rs , rs , rs , rs ) VKORC1 (dbsnp rs , rs ) Fluoreszenz-markierte Hybridisierungssonden (Real-time PCR) Mutationsanalyse bei heterogenem Spektrum krankheitsursächlicher Varianten Abetalipoproteinämie (MTTP-Gen [OMIM #157147]) Achondrogenesie Typ 2 (Langer- Saldino) (COL2A1-Gen [OMIM #120140]) Achondroplasie (ACH) (FGFR3-Gen [OMIM #134934]) Adams-Oliver Syndrom Typ 5 (NOTCH1-Gen [OMIM #190198]) Adrenogenitales Syndrom (AGS) (CYP21A2-Gen [OMIM #613815]) Agammaglobulinämie Bruton (XLA) (BTK-Gen [OMIM #300300]) Ahornsiruperkrankung (MSUD) (BCKDHA-Gen [OMIM #608348]) Ahornsiruperkrankung (MSUD) (BCKDHB-Gen [OMIM #248611]) Ahornsiruperkrankung Typ 2 (DBT- Gen [OMIM #248610]) Entfristet am: Seite 12 von 213

15 Akromikrische Dysplasie (ACMICD) (FBN1-Gen [OMIM #134797]) Akute hepatische Porphyrie (ALA- Dehydratase-Defizienz) (ALAD-Gen [OMIM #125270]) Akute intermittierende Porphyrie (HMBS-Gen [OMIM #609806]) Alopezie (Atrichia mit papulären Läsionen, APL) (HR-Gen [OMIM #602302]) Alpha-1-Antitrypsin-Mangel (SERPINA1-Gen [OMIM #613490]) Alpha-Thalassämie-Xchromosomale Intelligenzminderung-Syndrom (ATRX-Gen [OMIM #300032]) Alpha-Tubulinopathie - Lissenzephalie 3 (TUBA1A-Gen [OMIM #602529]) Alport Syndrom, autosomal dominant (COL4A3-Gen [OMIM #120070]) Alport Syndrom, autosomal rezessiv (COL4A3-Gen [OMIM #120070]) Alport Syndrom, autosomal rezessiv (COL4A4-Gen [OMIM #120131]) Alport Syndrom, X-linked (COL4A5- Gen [OMIM #303630]) Alport-Syndrom (ATS) (COL4A5-Gen [OMIM #303630]) Alport-Syndrom Phänotyp (MYH9-Gen [OMIM #160775]) Alzheimer Erkrankung, Spätform (APOE-Gen [OMIM #107741]) Amyloidose, familiäre Form (TTR-Gen [OMIM #176300]) Andersen-Tawil-Syndrom (KCNJ2-Gen [OMIM #600681]) Androgeninsensitivität (AIS) (AR-Gen [OMIM #313700]) Entfristet am: Seite 13 von 213

16 Aneurysmen Osteoarthritis Syndrom (AOS) (SMAD3-Gen [OMIM #603109]) Angelman-Syndrom (UBE3A-Gen [OMIM #601623]) Antley-Bixler-Syndrom ohne Genitalanomalien oder Steroidsynthesestörungen (FGFR2- Gen [OMIM #176943]) Aortenaneurysma thorakal, familiär, 8 (AAT8) (PRKG1-Gen [OMIM #176894]) Aortendissektion, familiäre thorakaler Typ 3 (FAA3) (TGFBR2-Gen [OMIM #190182]) Aortendissektion, familiäre thorakaler Typ 4 (FAA4) (MYH11-Gen [OMIM #160745]) Aortendissektion, familiäre thorakaler Typ 5 (FAA5) (TGFBR1-Gen [OMIM #190181]) Aortendissektion, familiäre thorakaler Typ 6 (FAA6) (ACTA2-Gen [OMIM #102620]) Aortendissektion, familiäre thorakaler Typ 7 (AAT7) (MYLK-Gen [OMIM #600922]) Apert-Syndrom (FGFR2-Gen [OMIM #176943]) Apolipoprotein A-I-Defizienz (APOA1- Gen [OMIM #107680]) Apolipoprotein A-V-Defizienz (APOA5- Gen [OMIM #606368]) Apolipoprotein B-Defizienz (FLDB) (APOB-Gen [OMIM #107730]) Apolipoprotein C-II-Defizienz (Typ I- Hyperlipidämie) (APOC2-Gen [OMIM #608083]) Arterial Tortuosity Syndrom (ATS) (SLC2A10-Gen [OMIM #606145]) Methylierungsspez. PCR nach Bisulfitbehandlung, PCR, Sanger- Sequenzierung Entfristet am: Seite 14 von 213

17 ARVD (LMNA-Gen [OMIM #150330]) ARVD5 (TMEM43-Gen [OMIM #612048]) ARVD8 (DSP-Gen [OMIM #125647]) ARVD9 (PKP2-Gen [OMIM #602861]) ARVD10 (DSG2-Gen [OMIM #125671]) ARVD11 (DSC2-Gen [OMIM #125645]) ARVD12 (JUP-Gen [OMIM #173325]) Ataxie, episodisch Typ 2 (EA2) (CACNA1A-Gen [OMIM #601011]) Ataxie, Friedreichsche (FRDA1) (FXN- Gen [OMIM #606829]) Ataxien, spinocerebelläre autosomaldominante (SCA1) (ATXN1-Gen [OMIM #601556]) Ataxien, spinocerebelläre autosomaldominante (SCA2) (ATXN2-Gen [OMIM #601517]) Ataxien, spinocerebelläre autosomaldominante (SCA3) (ATXN3-Gen [OMIM #607047]) Ataxien, spinocerebelläre autosomaldominante (SCA6) (CACNA1A-Gen [OMIM #601011]) Ataxien, spinocerebelläre autosomaldominante (SCA7) (ATXN7-Gen [OMIM #607640]) Ataxien, spinocerebelläre autosomaldominante (SCA17) (TBP-Gen [OMIM #600075]) Atrium Septum Defekt Typ 5 (ACTC1- Gen [OMIM #102540]) Autoimmun-Polyendokrinopathie- Candidiasis-Ektodermaldystrophie- Syndrom Typ I (APECED) (AIRE-Gen [OMIM #607358]) PCR, Fragmentlängenanalyse, TP-PCR, Agarosegelelektrophorese:long-range- PCR PCR, Fragmentlängenanalyse, TP-PCR PCR, Fragmentlängenanalyse, TP-PCR PCR, Fragmentlängenanalyse, TP-PCR PCR, Fragmentlängenanalyse, TP-PCR PCR, Fragmentlängenanalyse, TP-PCR PCR, Fragmentlängenanalyse, TP-PCR Entfristet am: Seite 15 von 213

18 Axenfeld-Rieger Syndrom Typ 3, mit und ohne Herzfehler (FOXC1-Gen [OMIM #601090]) Bannayan-Riley-Ruvalcaba- Syndrom (BRRS) (PTEN-Gen [OMIM #601728]) Bardet-Biedl Syndrom, Phänotyp (NPHP1-Gen [OMIM #607100]) Beare-Stevenson Cutis Gyrata Syndrom (BSTVS) (FGFR2-Gen [OMIM #176943]) Benigne, familiäre, infantile Krampfanfälle (BFIS3) (SCN2A-Gen [OMIM #182390]) Bent Bone Dysplasia (FGFR2-Gen [OMIM #176943]) Beta-Thalassämie (HBB-Gen [OMIM #141900]) Beta-Tubulinopathie - Kortikale Dysgenese mit pontozerebelläre Hypoplasie 1 (TUBB3-Gen [OMIM #602661]) Beta-Tubulinopathie - Kortikale Dysgenese mit pontozerebelläre Hypoplasie 6 (TUBB-Gen [OMIM #191130]) Beta-Tubulinopathie - Kortikale Dysgenese mit pontozerebelläre Hypoplasie 7 (TUBB2B-Gen [OMIM #612850]) Bikuspide Aortenklappe 1 (AOVD1) (NOTCH1-Gen [OMIM #190198]) Biotinidase-Defizienz (BTD-Gen [OMIM #609019]) Borjeson-Forssman-Lehmann- Syndrom (PHF6-Gen [OMIM #300414]) Branchiootisches-Syndrom 1, BOS1 (EYA1-Gen [OMIM #601653]) Branchio-oto-renales Syndrom Typ 1 (EYA1-Gen [OMIM #601653]) Entfristet am: Seite 16 von 213

19 Branchio-oto-renales Syndrom Typ 2 (SIX5-Gen [OMIM #600963]) Branchio-oto-renales Syndrom Typ 3 (SIX1-Gen [OMIM #601205]) Brugada-Syndrom (KCNH2-Gen [OMIM #152427]) Brugada-Syndrom 1 (SCN5A-Gen [OMIM #600163]) Brugada-Syndrom 2 (GPD1L-Gen [OMIM #611778]) Brugada-Syndrom 3 (CACNA1C-Gen [OMIM #114205]) Brugada-Syndrom 4 (CACNB2-Gen [OMIM #600003]) Brugada-Syndrom 5 (SCN1B-Gen [OMIM #600235]) Brugada-Syndrom 6 (KCNE3-Gen [OMIM #604433]) Brugada-Syndrom 7 (SCN3B-Gen [OMIM #608214]) Butyrylcholinesterase (BCHE)- Defizienz und postoperative Apnoe (BCHE-Gen [OMIM #177400]) CADASIL1 (NOTCH3-Gen [OMIM #600276]) Cardio-Fazio-Cutanes-Syndrom (CFC) Typ 1 (BRAF-Gen [OMIM #164757]) Cardio-Fazio-Cutanes-Syndrom (CFC) Typ 2 (KRAS-Gen [OMIM #190070]) Cardio-Fazio-Cutanes-Syndrom (CFC) Typ 3 (MAP2K1-Gen [OMIM #176872]) Cardio-Fazio-Cutanes-Syndrom (CFC) Typ 4 (MAP2K2-Gen [OMIM #601263]) Carnitin-Palmitoyl-Transferase- Mangel Typ1A (CPT1A-Gen [OMIM #600528]) Entfristet am: Seite 17 von 213

20 Carnitin-Palmitoyl-Transferase- Mangel Typ2 (CPT2-Gen [OMIM #600650]) Central Core Myopathie (RYR1-Gen [OMIM #180901]) Charcot-Marie-Tooth-Krankheit Typ 2B1 (CMT2B1) (LMNA-Gen [OMIM #150330]) Charcot-Marie-Tooth-Krankheit, X- chromosomale, Typ 1 (CMT1X) (GJB1- Gen [OMIM #304040]) CHARGE-Syndrom (CHD7-Gen [OMIM #608892]) Chorea Huntington (HTT-Gen [OMIM #613004]) Chorea, hereditäre benigne (NKX2-1- Gen [OMIM #600635]) CINCA-Syndrom (NLRP3-Gen [OMIM #606416]) Coenzyme Q10 Defizienz (COQ6-Gen [OMIM #614647]) Coffin-Lowry-Syndrom (CLS)(RPS6KA3- Gen [OMIM#300075]) Congenitale bilaterale Aplasie des Vas deferens (CBAVD) (CFTR-Gen [OMIM #602421]) Congenitale kontrakturelle Arachnodaktylie (CCA) (FBN2-Gen [OMIM #612570]) Cornelia de Lange-Syndrom 1 (NIPBL- Gen [OMIM #608667]) Costello-Syndrom (HRAS-Gen [OMIM #190020]) Costello-Syndrom (KRAS-Gen [OMIM #190070]) CPTII-Mangel, Infantil (CPT2-Gen [OMIM #600650]) CPTII-Mangel, letal neonatal (CPT2- Gen [OMIM #600650]) CPVT1 (RYR2-Gen [OMIM #180902]) PCR, Fragmentlängenanalyse, TP-PCR Entfristet am: Seite 18 von 213

21 CPVT2 (CASQ2-Gen [OMIM #114251]) Creutzfeldt-Jakob Erkrankung, familiäre Form (CJD) (PRNP-Gen [OMIM #176640]) Crigler-Najxr-Syndrom (UGT1A1-Gen [OMIM #191740]) Crouzon-Syndrom (FGFR2-Gen [OMIM #176943]) Cryopyrin-assoziierte periodische Syndrome (CAPS) (NLRP3-Gen [OMIM #606416]) Cutis laxa, autosomal rezessiv, Typ 1B (ARCL1B) (EFEMP2-Gen [OMIM #604633]) CYP1A2-Gen [OMIM #124060] CYP2B6-Gen [OMIM #123930] CYP2C8-Gen [OMIM #601129] CYP2C9-Gen [OMIM #601130] CYP2D6-Gen [OMIM #124030] CYP3A4-Gen [OMIM #124010] Cystische Fibrose (Mukoviszidose, CF) (CFTR-Gen [OMIM #602421]), Agarosegelektrophorese, Restriktionsanalyse DCM (DSP-Gen [OMIM #125647]) DCM (SCN5A-Gen [OMIM #600163]) DCM1A (LMNA-Gen [OMIM #150330]) DCM1D (TNNT2-Gen [OMIM #191045]) DCM1MM (MYBPC3-Gen [OMIM #600958]) DCM1NN/HCM (RAF1-Gen [OMIM #164760]) DCM1S (MYH7-Gen [OMIM #160760]) DCM1Y (TPM1-Gen [OMIM #191010]) DCM2A (TNNI3-Gen [OMIM #191044]) Entfristet am: Seite 19 von 213

22 DCM3B (DMD-Gen [OMIM #300377]) Dentatorubrale Pallido-Luysische Atrophie (DRPLA) (ATN1-Gen [OMIM #607462]) Denys-Drash Syndrom (WT1-Gen [OMIM #607102]) DFNA11 (auch Usher-Syndrom Typ 1B, s. syndromale Formen; auch DFNB2, s. autosomal-rezessive Formen) (MYO7A-Gen[OMIM#276903]) DFNA13 (auch DFNB53, s. autosomalrezessive Formen) (COL11A2-Gen [OMIM #120290]) DFNA17 (auch Makrothrombozytopenie und progressive sensorineurale Taubheit, s. syndromale Formen) (MYH9-Gen [OMIM#160775]) DFNA23 (auch Brachiootic syndrome 3) (SIX1-Gen [OMIM#601205]) DFNA2B (auch Schwerhörigkeit mit periferer Neuropathie; auch autosomal rezessive digenische Vererbung mit GJB2-Gen s ) (GJB3-Gen[OMIM#603324]) DFNA3A (auch DFNB1A, s. autosomalrezessive Form) (GJB2-Gen[OMIM #121011]) DFNA3B (auch DFNB1B, s. autosomal-rezessive Formen; auch digenische Vererbung mit GJB2-Gen s ) (GJB6-Gen[OMIM#604418]) DFNB12 (auch Usher-Syndrom Typ 1D s. syndromale Formen) (CDH23-Gen [OMIM#605516]) DFNB16 (STRC-Gen [OMIM #606440]) DFNB1B (auch DFNA3B s. autosomaldominante Formen, auch digenische Vererbungen mit GJB2-Gen, s ) (GJB6-Gen [OMIM #604418]) PCR, Fragmentlängenanalyse Entfristet am: Seite 20 von 213

23 DFNB2 (auch Usher-Syndrom Typ 1B, s. syndromale Formen; auch DFNA11, s. autosomal-dominante Formen) (MYO7A-Gen[OMIM#276903]) DFNB23 (auch Usher-Syndrom Typ 1F, s. syndromale Formen, auch digenische Vererbung mit CDH23 Gen, s ) (PCDH15-Gen [OMIM#605514]) DFNB4 (SLC26A4-Gen[OMIM #605646]) DFNB53 (auch DFNA13 s. autosomaldominante Formen) (COL11A2-Gen [OMIM #120290]) Diabetes insipidus renalis (NDI) (AVPR2-Gen [OMIM #300538]) DPD-Defizienz, hereditäre (hereditäre Thymin-Uracilurie) (DPYD-Gen [OMIM #612779]) Dravet-Syndrom (SCN1A-Gen [OMIM #182389]) Dysbetalipoproteinämie (Typ III- Hyperlipidämie) (APOE-Gen [OMIM #107741]) EDMD2 (LMNA-Gen [OMIM #150330]) EDMD3 (LMNA-Gen [OMIM #150330]) EDMD7 (TMEM43-Gen [OMIM #612048]) EDS, Progeroider Typ 2 (EDSP2) (B3GALT6-Gen [OMIM #615291]) Ehlers-Danlos-Syndrom mit Herzklappenbeteiligung (cveds) (COL1A2-Gen [OMIM #120160]) Entfristet am: Seite 21 von 213

24 Ehlers-Danlos-Syndrom mit periventrikulärer Heterotopie (PVNH4)(FLNA-Gen[OMIM#300017]) Ehlers-Danlos-Syndrom mit Tenascin- X-Defizienz (cleds) (TNXB-Gen [OMIM #600985]) Ehlers-Danlos-Syndrom, Arthrochalasis Typ (aeds) (COL1A1- Gen [OMIM #120150]) Ehlers-Danlos-Syndrom, Arthrochalasis Typ (aeds) (COL1A2- Gen [OMIM #120160]) Ehlers-Danlos-Syndrom, Dermatosparaxis Typ (deds) (ADAMTS2-Gen [OMIM #604539]) Ehlers-Danlos-Syndrom, klassischer Typ (ceds) (COL1A1-Gen [OMIM #120150]) Ehlers-Danlos-Syndrom, klassischer Typ (ceds) (COL5A1-Gen [OMIM #120215]) Ehlers-Danlos-Syndrom, klassischer Typ (ceds) (COL5A2-Gen [OMIM #120190]) Ehlers-Danlos-Syndrom, kyphoskoliotischer Typ (keds) (FKBP14-Gen [OMIM #614505]) Ehlers-Danlos-Syndrom, kyphoskoliotischer Typ (keds)(plod1- Gen [OMIM#153454]) Ehlers-Danlos-Syndrom, muskulokontraktureller Typ 1 (mceds) (CHST14-Gen [OMIM #608429]) Entfristet am: Seite 22 von 213

25 Ehlers-Danlos-Syndrom, Spondylodysplastische Form (speds- B3GALT6) (B3GALT6-Gen [OMIM #615291]) Ehlers-Danlos-Syndrom, Spondylodysplastische Form (speds- B4GALT7) (B4GALT7-Gen [OMIM #604327]) Ehlers-Danlos-Syndrom, vaskulärer Typ (veds) (COL3A1-Gen [OMIM #120180]) EIEE1 - Frühinfantile epileptische Enzephalopathie, Ohtahara-Syndrom (ARX-Gen [OMIM #300382]) EIEE1 - Partington-Syndrom (ARX-Gen [OMIM #300382]) EIEE1 - Proud-Syndrom (ARX-Gen [OMIM #300382]) EIEE11 - Frühinfantile epileptische Enzephalopathie, Ohtahara-Syndrom (SCN2A-Gen [OMIM #182390]) EIEE2 - Atypisches Rett-Syndrom (CDKL5-Gen [OMIM #300203]) EIEE4 - Frühinfantile epileptische Enzephalopathie, Ohtahara-Syndrom (STXBP1-Gen [OMIM #602926]) EIEE42 - Frühinfantile epileptische Enzephalopathie (CACNA1A-Gen [OMIM #601011]) EIEE6 - Dravet-Syndrom, SMEI (SCN1A- Gen [OMIM #182389]) EIEE6 - Panayiotopoulos-Syndrom (SCN1A-Gen [OMIM #182389]) EIEE9 - Epilepsie mit mentaler Retardierung bei Mädchen (Juberg- Hellmann-Syndrom) (PCDH19-Gen [OMIM #300460]) Entfristet am: Seite 23 von 213

26 Ektopia lentis, familiär, isoliert (ECTOL1) (FBN1-Gen [OMIM #134797]) Ektopia lentis, isoliert (ECTOL2) (ADAMTSL4-Gen [OMIM #610113]) Episodische Ataxie mit neonataler Epilepsie (SCN2A-Gen [OMIM #182390]) Episodische Ataxie, Typ 2 (CACNA1A- Gen [OMIM #601011]) Erkrankung der Aortenklappe Typ 1 (NOTCH1-Gen [OMIM #190198]) Erythropoetische Protoporphyrie (EPP) (ALAS2-Gen [OMIM #301300]) Erythropoetische Protoporphyrie (EPP) (FECH-Gen [OMIM #612386]) Faktor VII Mangel (F7-Gen [OMIM #613878]) Faktor XIII Mangel (F13A1-Gen [OMIM #134570]) Faktor XIII Mangel (F13B-Gen [OMIM #134580]) Familiäre Hypercholesterinämie (FH) (LDLR-Gen [OMIM #606945]) Familiäre Dysbetalipoproteinämie (APOE-Gen [OMIM #107741]) Familiäre Hypobetalipoproteinämie (FHBL) (ANGPTL3-Gen [OMIM #604774]) Familiäre Hypobetalipoproteinämie (FHBL) (APOB-Gen [OMIM #107730]) Familiäre Hypobetalipoproteinämie (FHBL) (PCSK9-Gen [OMIM #607786]) Familiäres Kälte-assoziiertes autoinflammatorisches Syndrom Typ I (NLRP3-Gen [OMIM #606416]) Familiäres Mittelmeerfieber (MEFV- Gen [OMIM #608107]) Entfristet am: Seite 24 von 213

27 Fehlbildungen der ableitenden Harnwege / Urofaziales Syndrom Typ 1 (HPSE2-Gen [OMIM #613469]) Fehlbildungen der ableitenden Harnwege (HNF1B-Gen [OMIM #189907]) Fehlbildungen der ableitenden Harnwege (RET-Gen [OMIM #164761]) Fehlbildungen der ableitenden Harnwege / Branchio-oto-renales Syndrom Typ 1 (EYA1-Gen [OMIM #601653]) Fehlbildungen der ableitenden Harnwege / Prune-Belly Syndrom (ACTA2-Gen [OMIM #102620]) Fehlbildungen der ableitenden Harnwege / Prune-Belly Syndrom (CHRM3-Gen [OMIM #118494]) Fehlbildungen der ableitenden Harnwege / Urofacial syndrome Typ 2 (LRIG2-Gen [OMIM #608869]) FHM1 - familiäre hemiplegische Migräne Typ 1 (CACNA1A-Gen [OMIM #601011]) FHM2 - familiäre hemiplegische Migräne Typ 2 (ATP1A2-Gen [OMIM #182340]) FHM3 - familiäre hemiplegische Migräne Typ 3 (SCN1A-Gen [OMIM #182389]) Fish Eye Disease (FED) (LCAT-Gen [OMIM #606967]) FLNA-assoziierte Lungenerkrankung (FLNA-Gen [OMIM #300017]) Fokal segmentale Glomerulosklerose (COL4A3-Gen [OMIM #120070]) Entfristet am: Seite 25 von 213

28 Fokal segmentale Glomerulosklerose (COL4A4-Gen [OMIM #120131]) Fokal segmentale Glomerulosklerose (COL4A5-Gen [OMIM #303630]) Fokal segmentale Glomerulosklerose (MYH9-Gen [OMIM #160775]) Fokal segmentale Glomerulosklerose Typ 1 (ACTN4-Gen [OMIM #604638]) Fokal segmentale Glomerulosklerose Typ 2 (TRPC6-Gen [OMIM #603652]) Fokal segmentale Glomerulosklerose Typ 3 (CD2AP-Gen [OMIM #604241]) Fokal segmentale Glomerulosklerose Typ 5 (INF2-Gen [OMIM #610982]) Fragiles X-Tremor-Ataxie-Syndrom, FXTAS (FMR1-Gen [OMIM #309550]) Fragiles-X assoziierte prämature Ovarialinsuffizienz, FXPOI (FMR1-Gen [OMIM #309550]) Fragiles-X-Syndrom (FMR1-Gen [OMIM #309550]) Frasier Syndrom (WT1-Gen [OMIM #607102]) Frühkindliche epileptische Enzephalopathie 1 (ARX-Gen [OMIM #300382]) Frühkindliche epileptische Enzephalopathie 2 / Rett-Syndrom, atypisch (CDKL5-Gen [OMIM #300203]) Frühkindliche epileptische Enzephalopathie 4 (STXBP1-Gen [OMIM #602926]) PCR, Fragmentlängenanalyse PCR, Fragmentlängenanalyse PCR, Fragmentlängenanalyse Entfristet am: Seite 26 von 213

29 Frühkindliche epileptische Enzephalopathie 9 (PCDH19-Gen [OMIM #300460]) Frühkindliche epileptische Enzephalopathie 11 (SCN2A-Gen [OMIM #182390]) Frühkindliche X-gebundene Epilepsie mit geistiger Behinderung (PCDH19- Gen [OMIM #300460]) FSH-Rezeptor-Defizienz (FSHR-Gen [OMIM #136435]) Galaktosämie (GALT-Gen [OMIM #606999]) GEFS+ - Generalisierte Epilepsie mit Fieberkrämpfen plus Typ 1 (GEFSP1) (SCN1B-Gen [OMIM #600235]) GEFS+ - Generalisierte Epilepsie mit Fieberkrämpfen plus Typ 2 (GEFSP2) (SCN1A-Gen [OMIM #182389]) GEFS+ - Generalisierte Epilepsie mit Fieberkrämpfen plus Typ 3 (GEFSP3) (GABRG2-Gen [OMIM #137164]) Geleophysische Dysplasie (GPHYSD2) (FBN1-Gen [OMIM #134797]) Gerstmann-Sträussler-Scheinker- Syndrom (PRNP-Gen [OMIM #176640]) Gitelman-Syndrom (SLC12A3-Gen [OMIM #600968]) Glucose-6-Phosphat- Dehydrogenase-Defizienz (Favismus) (G6PD-Gen [OMIM #305900]) Glukosetransporter Typ 1-Defizienz- Syndrom (GLUT1-DS) (SLC2A1-Gen [OMIM #138140]) Glutarazidurie Typ 1 (GCDH-Gen [OMIM #608801]) GPIHBP1-Defizienz (GPIHBP1-Gen [OMIM #612757]) Entfristet am: Seite 27 von 213

30 Hämophilie A (F8-Gen [OMIM #300841]) Hämophilie B (F9-Gen [OMIM #300746]) Hartsfield-Bixler-Demyer Syndrom (FGFR1-Gen [OMIM #136350]) HCM (MYLK2-Gen [OMIM #606566]) HCM1 (MYH7-Gen [OMIM #160760]) HCM2 (TNNT2-Gen [OMIM #191045]) HCM4 (MYBPC3-Gen [OMIM #600958]) HCM7 (TNNI3-Gen [OMIM #191044]) HCM8 (MYL3-Gen [OMIM #160790]) HCM10 (MYL2-Gen [OMIM #160781]) HCM11 (ACTC1-Gen [OMIM #102540]) Hepatische Lipase-Mangel (LIPC-Gen [OMIM #151670]) Hepatoerythropoetische Porphyrie (HEP) (UROD-Gen [OMIM #613521]) Hereditäre Koproporphyrie (HCP) (CPOX-Gen [OMIM #612732]) Hereditäre Neuropathie mit Neigung zu Drucklähmung (HNPP)(PMP22-Gen [OMIM#601097]) Hereditäre Sphärozytose Typ 1 (ANK1- Gen [OMIM #612641]) Hereditäre Sphärozytose Typ 2 (SPTB- Gen [OMIM #182870]) Hereditäre Sphärozytose Typ 3 (SPTA1- Gen [OMIM#182860]) Hereditäre Sphärozytose Typ 4 (SLC4A1-Gen [OMIM #109270]) Hereditäre Sphärozytose Typ 5 (EPB42- Gen [OMIM#177070]) Entfristet am: Seite 28 von 213

31 Heterotopie, periventrikulär nodulär (FLNA-Gen [OMIM #300017]) Hirn-Lunge-Schilddrüse-Syndrom (NKX2-1-Gen [OMIM #600635]) HNF1B-assoziierte kongenitale Fehlbildungen der Nieren und ableitenden Harnwege (CAKUT) (HNF1B-Gen [OMIM #189907]) Hörverlust, rezessiv (GJB2-Gen [OMIM # ]) Huntington-ähnliche Erkrankung 1 (PRNP-Gen [OMIM #176640]) Hyper-IgD-und-periodisches- Fiebersyndrom (HIDS) (MVK-Gen [OMIM #251170]) Hyperoxalurie, primäre, Typ 1 (PH1) (AGXT-Gen [OMIM #604285]) Hypobetalipoproteinämie, familiär (FHBL) (APOB-Gen [OMIM #107730]) Hypochondrogenesie (COL2A1-Gen [OMIM #120140]) Hypochondroplasie (HCH) (FGFR3-Gen [OMIM #134934]) Hypogonadotroper Hypogonadismus 1 mit oder ohne Anosmie (ANOS1-Gen [OMIM #300836]) Hypogonadotroper Hypogonadismus 2 mit oder ohne Anosmie (FGFR1-Gen [OMIM #136350]) Hypogonadotroper Hypogonadismus 3 mit oder ohne Anosmie (PROKR2-Gen [OMIM #607123]) Entfristet am: Seite 29 von 213

32 Hypogonadotroper Hypogonadismus 4 mit oder ohne Anosmie (PROK2-Gen [OMIM #607002]) Hypogonadotroper Hypogonadismus 5 mit oder ohne Anosmie (CHD7-Gen [OMIM #608892]) Hypogonadotroper Hypogonadismus 6 mit oder ohne Anosmie (FGF8-Gen [OMIM #600483]) Hypokaliämische Periodische Paralyse (KCNJ18-Gen [OMIM #613236]) Hypokaliämische Periodische Paralyse Typ 1 (CACNA1S-Gen [OMIM #114208]) Hypokaliämische periodische Paralyse Typ 1 (HOKPP1) (CACNA1S-Gen [OMIM #114208]) Idiopathische, generalisierte Epilepsie mit Absencen (SLC2A1-Gen [OMIM #138140]) Isovalerianazidämie (IVD-Gen [OMIM #607036]) xckson-weiss Syndrom (FGFR1-Gen [OMIM #136350]) xckson-weiss Syndrom (FGFR2-Gen [OMIM #176943]) Jervell-Lange-Nielsen-Syndrom 1 (KCNQ1-Gen [OMIM #607542]) Jervell-Lange-Nielsen-Syndrom 2 (KCNE1-Gen [OMIM #176261]) Joubert Syndrom Typ 4 (NPHP1-Gen [OMIM #607100]) Juvenile Poliposis/Hereditäres hemorrhagisches Teleangiektasie Syndrom (JPHT) (SMAD4-Gen [OMIM #600993]) Entfristet am: Seite 30 von 213

33 Kabuki-Syndrom 1 (KMT2D-Gen [OMIM #602113]) Kardiale valvuläre Dysplasie, X-linked (FLNA-Gen [OMIM #300017]) Kardio-fazio-kutanes Syndrom 1 (BRAF-Gen [OMIM #164757]) Kardio-fazio-kutanes Syndrom 2 (KRAS- Gen [OMIM#190070]) Kardio-fazio-kutanes Syndrom 3 (MAP2K1-Gen [OMIM #176872]) Kardio-fazio-kutanes Syndrom 4 (MAP2K2-Gen [OMIM #601263]) Kindliche Absence- Epilepsie 2 (ECA2) (GABRG2-Gen [OMIM #137164]) Kniest-Syndrom (COL2A1-Gen [OMIM #120140]) Kongenitale alveolar-kapilläre Dysplasie (ACDMPV) (FOXF1-Gen [OMIM #601089]) Kongenitale erythropoetische Porphyrie (CEP) (UROS-Gen [OMIM #606938]) Kongenitale Fehlbildung der Nieren und ableitenden Harnwege (CAKUT) (ANOS1-Gen [OMIM #300836]) Kongenitale Fehlbildung der Nieren und ableitenden Harnwege (CAKUT) (HNF1B-Gen [OMIM #189907]) Kongenitale Fehlbildung der Nieren und ableitenden Harnwege (CAKUT) / Axenfeld-Rieger Syndrom Typ 3 (FOXC1-Gen [OMIM #601090]) Kongenitale Fehlbildung der Nieren und ableitenden Harnwege (CAKUT)/ Nierenagenesie /Hypoplasie Phänotyp (RET-Gen[OMIM#164761]) Kongenitale kontrakturelle Arachnodaktylie (FBN2-Gen[OMIM #612570]) Entfristet am: Seite 31 von 213

34 Kongenitaler Laktasemangel (LCT-Gen [OMIM #603202]) Kraniosynostose Typ 1 (CRS1)(TWIST1- Gen [OMIM#601622]) LDL-Adaptor-Protein-Defizienz (LDLRAP1-Gen [OMIM #605747]) LDL-Rezeptor-Defizienz (LDLR-Gen [OMIM #606945]) Lecithin-Cholesterin Acyltransferase- (LCAT-) Defizienz (LCAT-Gen [OMIM #606967]) Legius-Syndrom, Neurofibromatose Typ 1-ähnliches Syndrom (NFLS) (SPRED1-Gen [OMIM #609291]) LEOPARD-Syndrom (MAP2K1-Gen [OMIM #176872]) LEOPARD-Syndrom Typ 1 (PTPN11- Gen [OMIM #176876]) LEOPARD-Syndrom Typ 2 (RAF1-Gen [OMIM #164760]) LEOPARD-Syndrom Typ 3 (BRAF-Gen [OMIM #164757]) Léri-Weill Dyschondrosteose, Langer mesomele Dysplasie (SHOX-Gen [OMIM #312865]) LGMD1B (LMNA-Gen [OMIM #150330]) LGMD1C (CAV3-Gen [OMIM #601253]) Li-Fraumeni-Syndrom (LFS) (TP53-Gen [OMIM #191170]) Lipoproteinlipase- (LPL-) Defizienz, familiär (LPL-Gen [OMIM #609708]) Loeys-Dietz-Syndrom Typ 1 (LDS1) (TGFBR1-Gen [OMIM #190181]) Loeys-Dietz-Syndrom Typ 2 (LDS2) (TGFBR2-Gen [OMIM #190182]) Loeys-Dietz-Syndrom Typ 3 (LDS3) (SMAD3-Gen [OMIM #603109]) Loeys-Dietz-Syndrom Typ 4 (LDS4) (TGFB2-Gen [OMIM #190220]) Entfristet am: Seite 32 von 213

35 Longchain-Acyl-CoA-Dehydrogenase Defizienz (LCHAD) (HADHA-Gen [OMIM #600890]) LQT (KCNE3-Gen [OMIM #604433]) LQT1 (KCNQ1-Gen [OMIM #607542]) LQT2 (KCNH2-Gen [OMIM #152427]) LQT3 (SCN5A-Gen [OMIM #600163]) LQT4 (ANK2-Gen [OMIM #106410]) LQT5 (KCNE1-Gen [OMIM #176261]) LQT6 (KCNE2-Gen [OMIM #603796]) LQT7 Anderson-Syndrom (KCNJ2-Gen [OMIM #600681]) LQT8 Timothy Syndrom (CACNA1C- Gen [OMIM #114205]) LQT9 (CAV3-Gen [OMIM #601253]) LQT10 (SCN4B-Gen [OMIM #608256]) LQT12 (SNTA1-Gen [OMIM #601017]) Makrothrombozytopenie und progresive sensorineurale Taubheit (MYH9-Gen [OMIM #160775]) Maligne Hyperthermie (CACNA1S-Gen [OMIM #114208]) Maligne Hyperthermie (RYR1-Gen [OMIM #180901]) Malignes Melanom (BRAF-Gen [OMIM #164757]) Malignes Melanom (NRAS-Gen [OMIM #164790]) Malignes Melanom, familiäre Form Typ 2 (CDKN2A-Gen [OMIM #600160]) Mangel an mitochondrialem trifunktionalen Protein (MTP-Mangel) (HADHA-Gen [OMIM #600890]) Entfristet am: Seite 33 von 213

36 Marfan-Syndrom (MFS) (FBN1-Gen [OMIM #134797]) Marfan-Syndrom Typ 2 (MFS2) (TGFBR1-Gen [OMIM #190181]) Marfan-Syndrom Typ 2 (MFS2) (TGFBR2-Gen [OMIM #190182]) Marshall-Syndrom (COL11A1-Gen [OMIM #120280]) MASS-Syndrom (MASS) (FBN1-Gen [OMIM #134797]) MCPH5 (ASPM-Gen [OMIM #605481]) Meacham Syndrom (WT1-Gen [OMIM #607102]) Melnick-Needles Syndrom (FLNA-Gen [OMIM #300017]) Mentale Retardierung, X-chromosomal-syndromal Nascimento Typ (UBE2A-Gen [OMIM #312180]) Metaphysäre Chondrodysplasie Typ Schmid (MCDS)(COL10A1-Gen[OMIM #120110]) Methylmalonazidurie, Vit.B12- resistent (MUT-Gen [OMIM #609058]) Mevalonazidurie (MVK-Gen [OMIM #251170]) Mikrophthalmie Typ Lenz (BCOR-Gen [OMIM #300485]) Minicore-Myopathie mit externer Ophthalmoplegie (RYR1-Gen [OMIM #180901]) Mittelketten-Acyl-CoA- Dehydrogenase-Defizienz (MCAD) (ACADM-Gen [OMIM #607008]) Mittelmeerfieber, familiäre Form (FMF) (MEFV-Gen [OMIM #608107]) MODY-Diabetes Typ 1 (HNF4A-Gen [OMIM #600281]) Entfristet am: Seite 34 von 213

37 MODY-Diabetes Typ 2 (GCK-Gen [OMIM #138079]) MODY-Diabetes Typ 3 (HNF1A-Gen [OMIM #142410]) MODY-Diabetes Typ 4 (PDX1-Gen [OMIM #600733]) MODY-Diabetes Typ 5 (HNF1B-Gen [OMIM #189907]) MODY-Diabetes Typ 6 (NEUROD1-Gen [OMIM #601724]) MODY-Diabetes Typ 7 (KLF11-Gen [OMIM #603301]) MODY-Diabetes Typ 8 (CEL-Gen [OMIM #114840]) MODY-Diabetes Typ 9 (PAX4-Gen [OMIM #167413]) MODY-Diabetes Typ 10 (INS-Gen [OMIM #176730]) MODY-Diabetes Typ 11 (BLK-Gen [OMIM #191305]) MODY-Diabetes Typ 12 (ABCC8-Gen [OMIM #600509]) MODY-Diabetes Typ 13 (KCNJ11-Gen [OMIM #600937]) Morbus Fabry (GLA-Gen [OMIM #300644]) Morbus Fabry, renale Variante (GLA- Gen [OMIM #300644]) Morbus Gaucher (GBA-Gen [OMIM #606463]) Morbus Pompe (GAA-Gen [OMIM #606800]) Mowat-Wilson-Syndrom (MWS)(ZEB2- Gen [OMIM#605803]) Muckle-Wells-Syndrom (NLRP3-Gen [OMIM #606416]) Muenke Syndrom (MNKES) (FGFR3- Gen [OMIM #134934]) Multiple endokrine Neoplasie Typ 2A und B (MEN2) (RET-Gen [OMIM #164761]) Muskelatrophie, spinale Typ I III (IV) (SMA1,2,3,4) (SMN1-Gen [OMIM #600354]) PCR, Restriktionsanalyse Entfristet am: Seite 35 von 213

38 Muskelatrophie, spinobulbär (SBMA, Kennedy Krankheit) (AR-Gen [OMIM #313700]) Muskeldystrophie Duchenne / Becker (DMD-Gen [OMIM #300377]) MUTYH-assoziierte Polyposis (MAP) (MUTYH-Gen [OMIM #604933]) Myopathie durch CPTII-Mangel (CPT2- Gen [OMIM #600650]) Myosinspeichermyopathie (MYH7- Gen [OMIM #160760]) Myotone Dystrophie (Curschmann- Steinert-Syndrom) (DMPK-Gen[OMIM #605377]) PCR, Fragmentlängenanalyse PCR, Fragmentlängenanalyse NAT2-Gen OMIM # NCCM4 (ACTC1-Gen [OMIM #102540]) NCCM5 (MYH7-Gen [OMIM #160760]) NCCM6 (TNNT2-Gen [OMIM #191045]) NCCM9 (TPM1-Gen [OMIM #191010]) NCCM10 (MYBPC3-Gen [OMIM #600958]) Nephronophthise Typ 1 (NPHP1-Gen [OMIM #607100]) Nephrotisches Syndrom Typ 1 (NPHS1- Gen [OMIM #602716]) Nephrotisches Syndrom Typ 2 (NPHS2- Gen [OMIM #604766]) Nephrotisches Syndrom Typ 3 (PLCE1- Gen [OMIM #608414]) Nephrotisches Syndrom Typ 4 (WT1- Gen [OMIM #607102]) Nephrotisches Syndrom Typ 5 (LAMB2- Gen [OMIM#150325]) Nephrotisches Syndrom, isoliert - NPHS4 (WT1-Gen [OMIM #607102]) Neurofibromatose Typ 1 (NF1) (NF1- Gen [OMIM #613113]) Entfristet am: Seite 36 von 213

39 Neurofibromatose-Noonan- Syndrom (NFNS) (NF1-Gen [OMIM #613113]) Neurofibromatose-Noonan- Syndrom (PTPN11-Gen [OMIM #176876]) Nierenagenesie/Hypoplasie Phänotyp (ANOS1-Gen [OMIM #300836]) Nierenagenesie/Hypoplasie Phänotyp (HNF1B-Gen [OMIM #189907]) Nierenagenesie/Hypoplasie Phänotyp (RET-Gen [OMIM #164761]) Noonan-Syndrom (NF1-Gen [OMIM #613113]) Noonan-Syndrom (PPP1CB-Gen [OMIM #600590]) Noonan-Syndrom (RASA2-Gen [OMIM #601589]) Noonan-Syndrom (RRAS-Gen [OMIM #165090]) Noonan-Syndrom Typ 1 (PTPN11-Gen [OMIM #176876]) Noonan-Syndrom Typ 3 (KRAS-Gen [OMIM #190070]) Noonan-Syndrom Typ 4 (SOS1-Gen [OMIM #182530]) Noonan-Syndrom Typ 5 (RAF1-Gen [OMIM #164760]) Noonan-Syndrom Typ 6 (NRAS-Gen [OMIM #164790]) Noonan-Syndrom Typ 7 (BRAF-Gen [OMIM #164757]) Noonan-Syndrom Typ 8 (RIT1-Gen [OMIM #609591]) Noonan-Syndrom Typ 9 (MAP2K1-Gen [OMIM #176872]) Noonan-Syndrom Typ 9 (MAP2K2-Gen [OMIM #601263]) Noonan-Syndrom Typ 9 (SOS2-Gen [OMIM #601247]) Entfristet am: Seite 37 von 213

40 Noonan-Syndrom-ähnliche Erkrankung mit losem Anagenhaar 2 (PPP1CB-Gen [OMIM #600590]) Noonan-Syndrom-ähnliche Erkrankung mit losem Anagenhaar (SHOC2-Gen [OMIM #602775]) Noonan-Syndrom-ähnliche Erkrankungen mit oder ohne juvenile myelomonozytäre Leukämie (CBL-Gen[OMIM #165360]) Okihiro-Syndrom (SALL4-Gen[OMIM #607343]) Osteogenesis imperfecta, type I (COL1A1-Gen [OMIM #120150]) Osteogenesis imperfecta, type I (COL1A2-Gen [OMIM #120160]) Osteogenesis imperfecta, type II (COL1A1-Gen [OMIM #120150]) Osteogenesis imperfecta, type II (COL1A2-Gen [OMIM #120160]) Osteogenesis imperfecta, type III (COL1A1-Gen [OMIM #120150]) Osteogenesis imperfecta, type III (COL1A2-Gen [OMIM #120160]) Osteogenesis imperfecta, type IV (COL1A1-Gen [OMIM #120150]) Osteogenesis imperfecta, type IV (COL1A2-Gen [OMIM #120160]) Osteogenesis imperfecta, type VII (CRTAP-Gen [OMIM #605497]) Osteogenesis imperfecta, type VIII (P3H1-Gen [OMIM #610339]) Osteogenesis imperfecta, type IX (PPIB-Gen [OMIM #123841]) Osteoglophonische Dysplasie (OGD) (FGFR1-Gen [OMIM #136350]) Otospondylomegaepiphysäre Dysplasie (OSMED) (COL11A2-Gen [OMIM #120290]) Ovarialdysgenesie Typ 1 (FSHR-Gen [OMIM #136435]) Ovarialdysgenesie Typ 2 (BMP15-Gen [OMIM#300247]) Entfristet am: Seite 38 von 213

41 Pankreaskarzinom (KRAS-Gen [OMIM #190070]) Pankreatitis, chronisch (CFTR-Gen [OMIM #602421]) Pankreatitis, chronisch (CPA1-Gen [OMIM #114850]) Pankreatitis, chronisch (CTRC-Gen [OMIM #601405]) Pankreatitis, chronisch (PRSS1-Gen [OMIM #276000]) Pankreatitis, chronisch (SPINK1-Gen [OMIM #167790]) PCSK9-assoziierte Hypercholesterinämie (PCSK9-Gen [OMIM #607786]) Pendred-Syndrom (SLC26A4-Gen [OMIM #605646]) Periventrikuläre Heterotopie (FLNA- Gen [OMIM #300017]) Peutz-Jeghers-Syndrom (PJS) (STK11- Gen [OMIM #602216]) Pfeiffer-Syndrom (FGFR1-Gen [OMIM #136350]) Pfeiffer-Syndrom (FGFR2-Gen [OMIM #176943]) Phenylketonurie (PAH-Gen [OMIM #612349]) Phenylketonurie/Hyperphenylalaninä mie (PKU/HPA) (PAH-Gen [OMIM #612349]) Pitt-Hopkins-Syndrom (PTHS) (TCF4- Gen [OMIM #602272]) POF, premature ovarian failure (BMP15-Gen [OMIM #300247]) POF, premature ovarian failure (FSHR- Gen [OMIM #136435]) Polyposis Coli, familiäre adenomatöse (FAP) (APC-Gen [OMIM #611731]) Porphyria cutanea tarda (PCT) (UROD- Gen [OMIM #613521]) Porphyria variegata (PV) (PPOX-Gen [OMIM #600923]) Entfristet am: Seite 39 von 213

42 Prader-Willi-Syndrom (PWS) Methylierungsspez. PCR nach Bisulfitbehandlung Primäre (a-r) Mikrozephalien Typ 5 (ASPM-Gen [OMIM #605481]) Primäre Myelofibrose (PMF) (EZH2- Gen [OMIM #601573]) Primäre pulmonale Hypertomie, mit und ohne Herzfehler (BMPR2-Gen [OMIM #600799]) Protein C-Mangel (PROC-Gen [OMIM #612283]) Protein S-Mangel (PROS1-Gen [OMIM #176880]) Prune-Belly Syndrom (ACTA2-Gen [OMIM #102620]) Prune-Belly Syndrom (CHRM3-Gen [OMIM #118494]) Pulmonale arterielle Hypertonie (PAH) (BMPR2-Gen [OMIM #600799]) Pulmonale arterielle Hypertonie (PAH) (SMAD4-Gen [OMIM #600993]) Pyridoxin-abhängige Epilepsie (ALDH7A1-Gen [OMIM #107323]) Pyridoxin-abhängige Epilepsie (EPD) (ALDH7A1-Gen [OMIM #601313]) Renal cysts and diabetes Syndrom (RCAD) (HNF1B-Gen [OMIM #189907]) Retinitis pigmentosa 39 (USH2A-Gen [OMIM #608400]) Rett Syndrom (RTT) (MECP2-Gen [OMIM #300005]) Rett-Syndrom, atypisch (CDKL5-Gen [OMIM #300203]) Rett-Syndrom, kongenitale Variante (FOXG1-Gen [OMIM #164874]) Robinow-Sorauf-Syndrom (TWIST1- Gen [OMIM #601622]) Entfristet am: Seite 40 von 213

43 Rubinstein-Taybi Syndrom 1 (CREBBP- Gen [OMIM #600140]) RYR1- assoziierte Myopathie (RYR1- Gen [OMIM #180901]) Saethre-Chotzen-Syndrom (SCS und SCS mit Augenlid-Anomalien) (FGFR2- Gen [OMIM #176943]) Saethre-Chotzen-Syndrom (SCS und SCS mit Augenlid-Anomalien) (TWIST1- Gen [OMIM#601622]) Senior-Løken-Syndrom Typ 1 (NPHP1- Gen [OMIM #607100]) SMA, proximal, spätmanifestierend mit folgender Cardiomyopathie (LMNA-Gen [OMIM #150330]) Smith-Lemli-Opitz-Syndrom (DHCR7- Gen [OMIM #602858]) Sotos-Syndrom (NSD1-Gen [OMIM #606681]) Spondyloepiphysäre Dysplasie (SED) (COL2A1-Gen [OMIM #120140]) Stickler-Syndrom Typ 3 (COL11A2-Gen [OMIM #120290]) Stiff-Skin-Syndrom (SSKS) (FBN1-Gen [OMIM #134797]) Surfactant-Dysfunktion Typ 1 (SFTPB- Gen [OMIM #178640]) Surfactant-Dysfunktion Typ 2 (SFTPC- Gen [OMIM #178620]) Surfactant-Dysfunktion Typ 3 (ABCA3- Gen [OMIM #601615]) Surfactant-Dysfunktion Typ 4 (CSF2RA- Gen [OMIM #306250]) Surfactant-Dysfunktion Typ 5 (CSF2RB- Gen [OMIM #138981]) TAAD Typ 4 (MYH11-Gen [OMIM #160745]) Tangier Erkrankung (TGD) (ABCA1- Gen [OMIM #600046]) Tangier-Erkrankung (APOA1-Gen [OMIM #107680]) Tatton-Brown-Rahman-Syndrom (DNMT3A [OMIM #602769]) Entfristet am: Seite 41 von 213

44 Taubheit, autosomal- dominant 11/autosomal-rezessiv 2/Usher- Syndrom, Typ 1B (MYO7A-Gen[OMIM #276903]) Taubheit, autosomal-dominant 13/ autosomal-rezessiv 53 (COL11A2-Gen [OMIM #120290]) Taubheit, autosomal-dominant 17 /Epstein-Syndrom/Fechtner- Syndrom/Makrothrombozytopenie und progressive sensorineurale Taubheit/May-Hegglin- Anomalie/Sebastian-Syndrom (MYH9- Gen [OMIM #160775]) Taubheit, autosomal-dominant 23 (SIX1-Gen [OMIM #601205]) Taubheit, autosomal-dominant 2B (GJB3-Gen [OMIM #603324]) Taubheit, autosomal-rezessiv 12/Usher -Syndrom, Typ 1D /F (CDH23-Gen [OMIM #605516]) Taubheit, autosomal-rezessiv 16 (STRC-Gen [OMIM #606440]) Taubheit, autosomal-rezessiv 1A (GJB2-Gen [OMIM #121011]) Taubheit, autosomal-rezessiv 23/Usher-Syndrom, Type 1D/F, 1F (PCDH15-Gen [OMIM #605514]) Taubheit, autosomal-rezessiv 4/Pendred-Syndrom (SLC26A4-Gen [OMIM #605646]) Thanatophore Dysplasie (TD) (FGFR3- Gen [OMIM #134934]) Timothy Syndrom (CACNA1C-Gen [OMIM #114205]) TNF-Rezeptor-1-assoziiertes periodisches Syndrom (TRAPS) (TNFRSF1A-Gen [OMIM #191190]) TPMT-Gen [OMIM #187680] Trigonozephalie Typ 1 (TRIGNO1) (FGFR1-Gen [OMIM #136350]) Tuberöse Sklerose Typ 1 (TSC1-Gen [OMIM #605284]) Entfristet am: Seite 42 von 213

45 Tuberöse Sklerose Typ 2 (TSC2-Gen [OMIM #191092]) Tyrosinämie Typ I (FAH-Gen [OMIM #613871]) UMOD-assoziierte Nierenerkrankung (UMOD-Gen [OMIM #191845]) Urofaciales Syndrom Typ 1 (HPSE2- Gen [OMIM #613469]) Urofaciales Syndrom Typ 2 (LRIG2- Gen [OMIM #608869]) Usher-Syndrom Typ 1B (MYO7A-Gen [OMIM #276903]) Usher-Syndrom Typ 1D (CDH23-Gen [OMIM #605516]) Usher-Syndrom Typ 1F (PCDH15-Gen [OMIM #605514]) Usher-Syndrom Typ 2A (USH2A-Gen [OMIM #608400]) Very Longchain-Acyl-CoA- DehydrogenaseDefizienz (VLCAD) (ACADVL-Gen [OMIM #609575]) Vesikoureteraler Reflux (TNXB-Gen [OMIM #600985]) von Willebrand Erkrankung TYP 1 (VWF-Gen [OMIM #613160]) von Willebrand Erkrankung TYP 2 (VWF-Gen [OMIM #613160]) Von-Willebrand-Jürgens-Syndrom (VWS) (VWF-Gen [OMIM #613160]) Wagner-Syndrom (WGN1) (VCAN-Gen [OMIM #118661]) Weaver-Syndrom (EZH2-Gen [OMIM #601573]) Weill-Marchesani Syndrom Typ 2 (FBN1-Gen [OMIM #134797]) Weill-Marchesani-Syndrom (WMS2) (FBN1-Gen [OMIM #134797]) Wilms-Tumor, isoliert (WT1-Gen [OMIM #607102]) Wilson Erkrankung (WND) (ATP7B- Gen [OMIM #606882]) Entfristet am: Seite 43 von 213

46 Wiskott-Aldrich-Syndrom (WAS)(WAS- Gen [OMIM#300392]) X-gebundener schwerer kombinierter Immundefekt (X-SCID) (IL2RG-Gen [OMIM #308380]) X-gebundenes lymphoproliferatives Syndrom (XLP1) (SH2D1A-Gen [OMIM #300490]) Zerebrale Mikroangiopathie mit Hämorrhagie, vermehrte Schlängelung der Netzhautarterien; Porenzephalie 1 (COL4A1-Gen[OMIM#120130]) Zyklische Neutropenie (CyN)/ schwere kongenitale Neutropenie (SCN) Locusheterogenität (Sanger-Sequenzierung) Adrenogenitales Syndrom (AGS) (CYP21A2 [OMIM #613815], CYP11B1 [OMIM #610613]) Alpha-Thalassämie (HBA1 [OMIM #141800], HBA2 [OMIM #141850]) Basalzellnävus-Syndrom (Gorlin-Goltz- Syndrom) (PTCH1 [OMIM #601309], PTCH2 [OMIM # ], SUFU [OMIM #607035]) Cardio-Fazio-Cutanes-Syndrom (CFC) (BRAF [OMIM #164757], KRAS [OMIM #190070], MAP2K1 [OMIM #176872], MAP2K2 [OMIM #601263]) Charcot-Marie-Tooth (CMT1) (PMP22 [OMIM #601097], GJB1 [OMIM #304040], MPZ [OMIM #159440]) Chylomikronämie-Syndrom (LPL [OMIM #609708], APOC2 [OMIM #608083]) Entfristet am: Seite 44 von 213

47 Dünne Basalmembran Nephropathie (TBMN) (COL4A3[OMIM#120070], COL4A4 [OMIM#120131], COL4A5 [OMIM#303630]) Ehlers-Danlos-Syndrom kyphoskoliotischer Typ (keds) (FKBP14[OMIM#614505], PLOD1 [OMIM#153454]) Fructoseintoleranz (hereditäre) (ALDOB [OMIM #612724], FBP1 [OMIM #611570]) Generalisierte Epilepsie mit Fieberkrämpfen plus (GEFS+)(SCN1A [OMIM#182389], SCN2A [OMIM #182390], SCN1B [OMIM#600235], GABRG2 [OMIM#137164], PCDH19 [OMIM#300460]) Kardiomyopathie, familiär restriktive (RCM)(TNNI3[OMIM #191044], TNNT2 [OMIM#191045], DES [OMIM#125660], ACTC1 [OMIM #102540]) Kolonkarzinom, familiär, nichtpolypös (HNPCC)(MLH1[OMIM #120436], MSH2 [OMIM#609309], MSH6 [OMIM#600678], PMS2 [OMIM#600259]) LEOPARD-Syndrom (BRAF[OMIM #164757], MAP2K1 [OMIM#176872], PTPN11 [OMIM#176876], RAF1 [OMIM#164760]) Marfan-Syndrom Typ 2 (MFS2) (TGFBR1 [OMIM #190181], TGFBR2 [OMIM #190182]) Neurofibromatose-Noonan Syndrom (NF/NS) (NF1 [OMIM #613113], PTPN11 [OMIM #176876]) Entfristet am: Seite 45 von 213

48 Noonan-Syndrom (BRAF[OMIM #164757], CBL [OMIM#165360], KRAS [OMIM#190070], MAP2K1 [OMIM #176872], MAP2K2 [OMIM#601263], NF1 [OMIM#613113], NRAS [OMIM #164790], PPP1CB [OMIM#600590], PTPN11 [OMIM#176876], RAF1 [OMIM#164760], RASA2 [OMIM #601589], RIT1 [OMIM#609591], RRAS [OMIM#165090], SHOC2 [OMIM#602775], SOS1 [OMIM #182530], SOS2 [OMIM#601247]) Pankreatitis, hereditäre (CPA1 [OMIM #114850], CTRC [OMIM #601405], PRSS1 [OMIM #276000], SPINK1 [OMIM #167790]) Pfeiffer-Syndrom (FGFR1 [OMIM #136350], FGFR2 [OMIM #176943]) Polyposis coli, juvenile (JPS) (SMAD4 [OMIM #600993], BMPR1A [OMIM #601299]) Polyzystische Nierenerkrankung (ADPKD) (PKD1 [OMIM #601313], PKD2 [OMIM #173910]) Propionazidämie (PCCA [OMIM #232000], PCCB [OMIM #232050]) Rett-Syndrom, atypisch, frühkindliche Epilepsie (CDKL5 [OMIM #300203], FOXG1 [OMIM #164874]) Silver-Russell-Syndrom (SRS) (H19 [OMIM #103280], IGF2 [OMIM #147470]) Taubheit, mitochondrial, medikamenten-induziert (MT-RNR1 [OMIM #561000], MT-TS1 [OMIM #516030]) Entfristet am: Seite 46 von 213

49 Tubulinopathien / Hirnfehlbildungen (TUBA1A [OMIM #602529], TUBA8 [OMIM #605742], TUBB [OMIM #191130], TUBB2A [OMIM #615101], TUBB2B [OMIM #612850], TUBB3 [OMIM #602661], TUBG1 [OMIM #191135]) Typ I-Hyperlipidämie (APOC2 [OMIM #608083], LPL [OMIM #609708], APOA5 [OMIM #606368]) Usher-Syndrom (ADGRV1 [OMIM #602851], CDH23 [OMIM #605516], CIB2 [OMIM #605564], CLRN1 [OMIM #606397], HARS [OMIM #142810], MYO7A [OMIM #276903], PCDH15 [OMIM #605514], PDZD7 [OMIM #612971], USH1C [OMIM #605242], USH1G [OMIM #607696], USH2A [OMIM #608400], WHRN [OMIM #607928]) Locusheterogenität (NGS-Panel) Absence-Epilepsie (CACNA1H [OMIM #607904], CLCN2 [OMIM #600570], EFHC1 [OMIM #608815], GABRA1 [OMIM #137160], GABRB3 [OMIM #137192], GABRG2 [OMIM #137164], NIPA2 [OMIM #608146], SLC2A1 [OMIM #138140]) Agammaglobulinämie, hereditäre (BLNK [OMIM #604515], BTK [OMIM #300300], CD79A [OMIM #112205], CD79B [OMIM #147245], IGHM [OMIM #147020], IGLL1 [OMIM #146770], LRRC8A [OMIM #608360], PIK3R1 [OMIM #171833]) Akute Porphyrien (ALAD[OMIM #125270], CPOX [OMIM#612732], HMBS [OMIM#609806], PPOX [OMIM #600923]) Entfristet am: Seite 47 von 213

50 Alagille-Syndrom (xg1 [OMIM #601920], NOTCH2 [OMIM #600275]) Alport Syndrom (COL4A3 [OMIM #120070], COL4A4 [OMIM #120131], COL4A5 [OMIM #303630], MYH9 [OMIM #160775]) Alzheimer Erkrankung, familiär (APP [OMIM #104760], PSEN1 [OMIM #104311], PSEN2 [OMIM #600759]) Angeborene Fehlbildungen der Nieren und ableitenden Harnwege (CAKUT) (ACE [OMIM #106180], ACTA2 [OMIM #102620], ACTG2 [OMIM #102545], AGT [OMIM #106150], AGTR1 [OMIM #106165], AGTR2 [OMIM #300034], ANOS1 [OMIM #300836], BICC1 [OMIM #614295], BMP4 [OMIM #112262], BMP7 [OMIM #112267], CDC5L [OMIM #602868], CHD1L [OMIM #613039], CHRM3 [OMIM #118494], DACH1 [OMIM #603803], DSTYK [OMIM #612666], ETV4 [OMIM #600711], ETV5 [OMIM #601600], EYA1 [OMIM #601653], FGF20 [OMIM #605558], FOXC1 [OMIM #601090], FOXC2 [OMIM #602402], FRAS1 [OMIM #607830], FREM1 [OMIM #608944], FREM2 [OMIM #608945], GATA3 [OMIM #131320], GDNF [OMIM #600837], GREM1 [OMIM #603054], GRIP1 [OMIM #604597], HNF1B [OMIM #189907], HPSE2 [OMIM #613469], ITGA3 [OMIM #605025], ITGA8 [OMIM #604063], LRIG2 [OMIM #608869], Fortsetzung der Zeile auf der nächsten Seite Entfristet am: Seite 48 von 213

51 Fortsetzung der Zeile von der vorherigen Seite MUC1 [OMIM#158340], PAX2 [OMIM #167409], PAX8 [OMIM#167415], REN [OMIM#179820], RET [OMIM #164761], ROBO2 [OMIM#602431], SALL1 [OMIM#602218], SIX1 [OMIM #601205], SIX2 [OMIM#604994], SIX5 [OMIM#600963], SOX17 [OMIM #610928], TBX18 [OMIM#604613], TNXB [OMIM#600985], TRAP1 [OMIM#606219], UMOD [OMIM #191845], UPK2 [OMIM#611558], UPK3A [OMIM#611559], WNT4 [OMIM#603490], WT1 [OMIM #607102], ZIC3 [OMIM#300265]) Angeborene Herzfehler (A2ML1 [OMIM#610627], ACTC1 [OMIM #102540], ACVR2B [OMIM#602730], ADAMTS10 [OMIM#608990], ARHGAP31 [OMIM#610911], BMPR2 [OMIM#600799], BRAF [OMIM #164757], CBL [OMIM#165360], CFAP53 [OMIM#614759], CFC1 [OMIM#605194], CHD7 [OMIM #608892], CITED2 [OMIM#602937], CREBBP [OMIM#600140], CRELD1 [OMIM#607170], DNAH11 [OMIM #603339], DNAH5 [OMIM#603335], DNAI1 [OMIM#604366], DOCK6 [OMIM#614194], DTNA [OMIM #601239], EHMT1 [OMIM#607001], ELN [OMIM#130160], EOGT [OMIM #614789], EP300 [OMIM#602700], EVC [OMIM#604831], EVC2 [OMIM #607261], FBN1 [OMIM#134797], FBN2 [OMIM#612570], FLNA [OMIM #300017], FOXC1 [OMIM#601090], FOXH1 [OMIM#603621], FOXP1 [OMIM#605515], GATA4 [OMIM #600576], GATA5 [OMIM#611496], GATA6 [OMIM#601656], Fortsetzung der Zeile auf der nächsten Seite Entfristet am: Seite 49 von 213

52 Fortsetzung der Zeile von der vorherigen Seite GDF1 [OMIM#602880], Gx1 [OMIM #121014], GPC3 [OMIM#300037], HRAS [OMIM#190020], xg1 [OMIM #601920], KDM6A [OMIM#300128], KMT2D [OMIM#602113], KRAS [OMIM#190070], LEFTY2 [OMIM #601877], LRP1 [OMIM#107770], LZTR1 [OMIM#600574], MAP2K1 [OMIM#176872], MAP2K2 [OMIM #601263], MED12 [OMIM#300188], MED13L [OMIM#608771], MGP [OMIM#154870], MMP21 [OMIM #608416], MYH11 [OMIM#160745], MYH6 [OMIM#160710], NF1 [OMIM #613113], NIPBL [OMIM#608667], NKX2-5 [OMIM#600584], NKX2-6 [OMIM#611770], NODAL [OMIM #601265], NOTCH1 [OMIM#190198], NOTCH2 [OMIM#600275], NPHP4 [OMIM#607215], NR2F2 [OMIM #107773], NRAS [OMIM#164790], NSD1 [OMIM#606681], PITX2 [OMIM #601542], PKD1L1 [OMIM#609721], PPP1CB [OMIM#600590], PTPN11 [OMIM#176876], RAF1 [OMIM #164760], RASA2 [OMIM#601589], RBM10 [OMIM#300080], RBPJ [OMIM#147183], RIT1 [OMIM #609591], RRAS [OMIM#165090], SALL1 [OMIM#602218], SALL4 [OMIM #607343], SEMA3E [OMIM#608166], SHOC2 [OMIM#602775], SMAD6 [OMIM#602931], SOS1 [OMIM #182530], SOS2 [OMIM#601247], SPRED1 [OMIM#609291], SPRY1 [OMIM#602465], TAB2 [OMIM #605101], TBX1 [OMIM#602054], TBX20 [OMIM#606061], TBX3 [OMIM #601621], TBX5 [OMIM#601620], TFAP2B [OMIM#601601], TGFBR1 [OMIM#190181], TGFBR2 [OMIM #190182], TLL1 [OMIM#606742], ZEB2 [OMIM#605802], ZFPM2 [OMIM#603693], ZIC3 [OMIM #300265]) Entfristet am: Seite 50 von 213

53 Arrhythmogene Erkrankungen (ABCC9 [OMIM#601439], ACTC1 [OMIM #102540], ACTN2 [OMIM#102573], AKAP9 [OMIM#604001], ANK2 [OMIM#106410], ANKRD1 [OMIM #609599], BAG3 [OMIM#603883], CACNA1C [OMIM#114205], CACNA2D1 [OMIM#114204], CACNB2 [OMIM#600003], CALM1 [OMIM #114180], CALM2 [OMIM#114182], CALR3 [OMIM#611414], CASQ2 [OMIM#114251], CAV3 [OMIM #601253], CRYAB [OMIM#123590], CSRP3 [OMIM#600824], DES [OMIM #125660], DMD [OMIM#300377], DSC2 [OMIM#125645], DSG2 [OMIM #125671], DSP [OMIM#125647], FKTN [OMIM#607440], GPD1L [OMIM #611778], HCN4 [OMIM#605206], ILK [OMIM#602366], JPH2 [OMIM #605267], JUP [OMIM#173325], KCND3 [OMIM#605411], KCNE1 [OMIM#176261], KCNE2 [OMIM #603796], KCNE3 [OMIM#604433], KCNE5 [OMIM#300328], KCNH2 [OMIM#152427], KCNJ2 [OMIM #600681], KCNJ5 [OMIM#600734], KCNJ8 [OMIM#600935], KCNQ1 [OMIM #607542], LAMA4 [OMIM#600133], LAMP2 [OMIM#309060], LDB3 [OMIM#605906], LMNA [OMIM #150330], MYBPC3 [OMIM#600958], MYH6 [OMIM#160710], MYH7 [OMIM#160760], MYL2 [OMIM #160781], MYL3 [OMIM#160790], MYLK2 [OMIM#606566], MYOZ2 [OMIM#605602], MYPN [OMIM #608517], NEBL [OMIM#605491], NEXN [OMIM#613121], PKP2 [OMIM #602861], PLN [OMIM#172405], PRDM16 [OMIM#605557], PRKAG2 [OMIM#602743], RAF1 [OMIM #164760], RANGRF [OMIM#607954], RBM20 [OMIM#613171], Fortsetzung der Zeile auf der nächsten Seite Entfristet am: Seite 51 von 213

54 Fortsetzung der Zeile von der vorherigen Seite RYR2 [OMIM#180902], SCN10A [OMIM#604427], SCN1B [OMIM #600235], SCN2B [OMIM#601327], SCN3B [OMIM#608214], SCN4B [OMIM#608256], SCN5A [OMIM #600163], SGCD [OMIM#601411], SLMAP [OMIM#602701], SNTA1 [OMIM#601017], TAZ [OMIM #300394], TCAP [OMIM#604488], TECRL [OMIM#617242], TGFB3 [OMIM#190230], TMEM43 [OMIM #612048], TNNC1 [OMIM#191040], TNNI3 [OMIM#191044], TNNT2 [OMIM#191045], TPM1 [OMIM #191010], TRDN [OMIM#603283], TRPM4 [OMIM#606936], TTN [OMIM #188840], VCL [OMIM#193065]) Arrhythmogene rechtsventrikuläre Dysplasie (ARVD)(DSC2[OMIM #125645], DSG2 [OMIM#125671], DSP [OMIM#125647], JUP [OMIM #173325], LMNA [OMIM#150330], PKP2 [OMIM#602861], TGFB3 [OMIM #190230], TMEM43 [OMIM#612048]) Arrhythmogene rechtsventrikuläre Dysplasie (ARVD)(DSC2[OMIM #125645], DSG2 [OMIM#125671], DSP [OMIM#125647], JUP [OMIM #173325], LMNA [OMIM#150330], PKP2 [OMIM#602861], TGFB3 [OMIM #190230], TMEM43 [OMIM#612048]) Ataxie mit Okulomotorischer Apraxie (AR) (APTX [OMIM #606350], PIK3R5 [OMIM #611317], PNKP [OMIM #605610], SETX [OMIM #608465]), Gendosisbestimmung Entfristet am: Seite 52 von 213

55 Ataxien (ABCB7[OMIM#300135], ABHD12 [OMIM#613599], ADCK3 [OMIM#606980], ADGRG1 [OMIM #604110], AFG3L2 [OMIM#604581], AHI1 [OMIM#608894], ANO10 [OMIM#613726], APTX [OMIM #606350], ARL13B [OMIM#608922], ATM [OMIM#607585], ATP8A2 [OMIM#605870], ATXN10 [OMIM #611150], C5orf42 [OMIM#614571], CA8 [OMIM#114815], CACNA1A [OMIM#601011], CACNA1G [OMIM #604065], CACNB4 [OMIM#601949], CAPN1 [OMIM#114220], CC2D2A [OMIM#612013], CCDC88C [OMIM #611204], CEP290 [OMIM#610142], CEP41 [OMIM#610523], CLCN2 [OMIM#600570], CLN5 [OMIM #608102], CLN6 [OMIM#606725], CSPP1 [OMIM#611654], DARS2 [OMIM#610956], DNAJC5 [OMIM #611203], DNMT1 [OMIM#126375], EEF2 [OMIM#130610], EIF2B1 [OMIM #606686], EIF2B2 [OMIM#606454], EIF2B3 [OMIM#606273], EIF2B4 [OMIM#606687], EIF2B5 [OMIM #603945], ELOVL4 [OMIM#605512], ELOVL5 [OMIM#611805], FGF14 [OMIM#601515], FLVCR1 [OMIM#609144], GBA2 [OMIM #609471], GJB1 [OMIM#304040], GLRB [OMIM#138492], GOSR2 [OMIM#604027], GRID2 [OMIM #602368], GRM1 [OMIM#604473], INPP5E [OMIM#613037], ITPR1 [OMIM#147265], KCNA1 [OMIM #176260], KCNC3 [OMIM#176264], KCND3 [OMIM#605411], KIAA0586 [OMIM#610178], KIF1C [OMIM #603060], KIF7 [OMIM#611254], MARS2 [OMIM#609728], MRE11A [OMIM#600814], MTPAP [OMIM #613669], NPC1 [OMIM#607623], NPC2 [OMIM#601015], NPHP1 [OMIM#607100], Fortsetzung der Zeile auf der nächsten Seite Entfristet am: Seite 53 von 213

56 Fortsetzung der Zeile von der vorherigen Seite OFD1 [OMIM#300170], OPA1 [OMIM #605290], PDE6D [OMIM#602676], PDYN [OMIM#131340], PEX10 [OMIM#602859], PEX2 [OMIM #170993], PIK3R5 [OMIM#611317], PLA2G6 [OMIM#603604], PNKP [OMIM#605610], PNPLA6 [OMIM #603197], POC1B [OMIM#614784], POLG [OMIM#174763], PRKCG [OMIM#176980], PRNP [OMIM#176640], RPGRIP1L [OMIM#610937], SACS [OMIM #604490], SCN2A [OMIM#182390], SETX [OMIM#608465], SIL1 [OMIM #608005], SLC1A3 [OMIM#600111], SNX14 [OMIM#616105], SPG7 [OMIM #602783], SPTBN2 [OMIM#604985], STUB1 [OMIM#607207], SYNE1 [OMIM#608441], SYT14 [OMIM #610949], TCTN1 [OMIM#609863], TCTN2 [OMIM#613846], TCTN3 [OMIM#613847], TDP1 [OMIM #607198], TGM6 [OMIM#613900], TMEM138 [OMIM#614459], TMEM216 [OMIM#613277], TMEM231 [OMIM#614949], TMEM237 [OMIM#614423], TMEM240 [OMIM#616101], TMEM67 [OMIM#609884], TRPC3 [OMIM #602345], TTBK2 [OMIM#611695], TTC21B [OMIM#612014], VAMP1 [OMIM#185880], VLDLR [OMIM #192977], WWOX [OMIM#605131], ZNF423 [OMIM#604557]) Entfristet am: Seite 54 von 213

57 Ataxien, syndromale Formen (ABCB7 [OMIM#300135], ABHD12 [OMIM #613599], ADCK3 [OMIM#606980], ADGRG1 [OMIM#604110], AHI1 [OMIM#608894], ARL13B [OMIM #608922], ATM [OMIM#607585], ATP8A2 [OMIM#605870], ATXN10 [OMIM#611150], C5orf42 [OMIM #614571], CA8 [OMIM#114815], CC2D2A [OMIM#612013], CEP290 [OMIM#610142], CEP41 [OMIM #610523], CLCN2 [OMIM#600570], CLN5 [OMIM#608102], CLN6 [OMIM #606725], CSPP1 [OMIM#611654], DARS2 [OMIM#610956], DNMT1 [OMIM#126375], FLVCR1 [OMIM #609144], GJB1 [OMIM#304040], GOSR2 [OMIM#604027], INPP5E [OMIM#613037], KIAA0586 [OMIM #610178], KIF7 [OMIM#611254], MRE11A [OMIM#600814], NPC1 [OMIM#607623], NPC2 [OMIM #601015], NPHP1 [OMIM#607100], OFD1 [OMIM#300170], OPA1 [OMIM #605290], PDE6D [OMIM#602676], PEX10 [OMIM#602859], PEX2 [OMIM #170993], PLA2G6 [OMIM#603604], PNPLA6 [OMIM#603197], POC1B [OMIM#614784], POLG [OMIM #174763], RPGRIP1L [OMIM #610937], SACS [OMIM#604490], SIL1 [OMIM#608005], TCTN1 [OMIM #609863], TCTN2 [OMIM#613846], TCTN3 [OMIM#613847], TMEM138 [OMIM#614459], TMEM216 [OMIM #613277], TMEM231 [OMIM #614949], TMEM237 [OMIM #614423], TMEM67 [OMIM#609884], TTC21B [OMIM#612014], VLDLR [OMIM#192977], ZNF423 [OMIM #604557]) Entfristet am: Seite 55 von 213

58 Augenerkrankungen (ABCA4 [OMIM #601691], ADGRV1 [OMIM #602851], ALMS1 [OMIM #606844], ARL6 [OMIM #608845], BBIP1 [OMIM #613605], BBS1 [OMIM #209901], BBS10 [OMIM #610148], BBS12 [OMIM #610683], BBS2 [OMIM #606151], BBS4 [OMIM #600374], BBS5 [OMIM #603650], BBS7 [OMIM #607590], BBS9 [OMIM #607968], BEST1 [OMIM #607854], C2orf71 [OMIM #613425], C8orf37 [OMIM #614477], CA4 [OMIM #114760], CCDC28B [OMIM #610162], CDH23 [OMIM #605516], CDHR1 [OMIM #609502], CEP290 [OMIM #610142], CERKL [OMIM #608381], CIB2 [OMIM #605564], CLRN1 [OMIM #606397], CNGA1 [OMIM #123825], CNGB1 [OMIM #600724], COL11A1 [OMIM #120280], COL2A1 [OMIM #120140], COL9A1 [OMIM #120210], COL9A2 [OMIM #120260], CRB1 [OMIM #604210], DHDDS [OMIM #608172], EYS [OMIM #612424], FAM161A [OMIM #613596], FSCN2 [OMIM #607643], GUCA1B [OMIM #602275], HARS [OMIM #142810], IDH3B [OMIM #604526], IFT172 [OMIM #607386], IFT27 [OMIM #615870], IFT74 [OMIM #608040], IMPDH1 [OMIM #146690], IMPG2 [OMIM #607056], INVS [OMIM #243305], IQCB1 [OMIM #609237], KIZ [OMIM #615757], KLHL7 [OMIM #611119], LZTFL1 [OMIM #606568], MAK [OMIM #154235], MERTK [OMIM #604705], MKKS [OMIM #604896], MKS1 [OMIM #609883], MYO7A [OMIM #276903], NEK2 [OMIM #604043], NPHP1 [OMIM #607100], NPHP3 [OMIM #608002], NPHP4 [OMIM #607215], NR2E3 [OMIM #604485], NRL [OMIM #162080], OFD1 [OMIM #300170], Fortsetzung der Zeile auf der nächsten Seite Entfristet am: Seite 56 von 213

59 Fortsetzung der Zeile von der vorherigen Seite PCDH15 [OMIM#605514], PDE6A [OMIM#180071], PDE6B [OMIM #180072], PDE6G [OMIM#180073], PDZD7 [OMIM#612971], PRCD [OMIM#610598], PROM1 [OMIM #604365], PRPF3 [OMIM#607301], PRPF31 [OMIM#606419], PRPF4 [OMIM#607795], PRPF6 [OMIM #613979], PRPF8 [OMIM#607300], PRPH2 [OMIM#179605], RBP3 [OMIM#180290], RGR [OMIM #600342], RHO [OMIM#180380], ROM1 [OMIM#180721], RP1 [OMIM #603937], RP2 [OMIM#300757], RP9 [OMIM#607331], RPE65 [OMIM #180069], RPGR [OMIM#312610], SAG [OMIM#181031], SDCCAG8 [OMIM#613524], SEMA4A [OMIM #607292], SLC7A14 [OMIM#615720], SNRNP200 [OMIM#601664], TMEM67 [OMIM#609884], TOPORS [OMIM#609507], TRAF3IP1 [OMIM #607380], TRIM32 [OMIM#602290], TTC8 [OMIM#608132], TULP1 [OMIM #602280], USH1C [OMIM#605242], USH1G [OMIM#607696], USH2A [OMIM#608400], WDPCP [OMIM #613580], WDR19 [OMIM#608151], WHRN [OMIM#607928], ZNF408 [OMIM#616454], ZNF513 [OMIM #613598]) Entfristet am: Seite 57 von 213

60 Autismus (ALDH5A1[OMIM#610045], AP1S2 [OMIM#300629], ARX [OMIM #300382], ATRX [OMIM#300032], AUTS2 [OMIM#607270], BRAF [OMIM #164757], CACNA1C [OMIM #114205], CASK [OMIM#300172], CDKL5 [OMIM#300203], CHD7 [OMIM#608892], CHD8 [OMIM #610528], CNTNAP2 [OMIM #604569], DHCR7 [OMIM#602858], DPP6 [OMIM#126141], EHMT1 [OMIM#607001], FGD1 [OMIM #300546], FOXG1 [OMIM#164874], FOXP1 [OMIM#605515], FOXP2 [OMIM#605317], GRIN2B [OMIM #138252], HPRT1 [OMIM#308000], KDM5C [OMIM#314690], L1CAM [OMIM#308840], MBD5 [OMIM #611472], MECP2 [OMIM#300005], MED12 [OMIM#300188], MEF2C [OMIM#600662], MID1 [OMIM #300552], NHS [OMIM#300457], NIPBL [OMIM#608667], NLGN3 [OMIM#300336], NLGN4X [OMIM #300427], NRXN1 [OMIM#600565], NSD1 [OMIM#606681], OPHN1 [OMIM#300127], PCDH19 [OMIM #300460], PHF6 [OMIM#300414], PNKP [OMIM #605610], PQBP1 [OMIM#300463], PTCHD1 [OMIM#300828], PTEN [OMIM#601728], PTPN11 [OMIM #176876], RAB39B [OMIM#300774], RAI1 [OMIM#607642], SCN1A [OMIM #182389], SHANK2 [OMIM#603290], SHANK3 [OMIM#606230], SLC9A6 [OMIM#300231], SMARCB1 [OMIM #601607], SMC1A [OMIM#300040], SMC3 [OMIM#606062], TCF4 [OMIM #602272], TSC1 [OMIM#605284], TSC2 [OMIM#191092], UBE2A [OMIM #312180], UBE3A [OMIM#601623], VPS13B [OMIM#607817], ZEB2 [OMIM#605802]) Entfristet am: Seite 58 von 213

61 Autismus (CACNA1C[OMIM #114205], CDKL5 [OMIM#300203], FOXP1 [OMIM#605515], MECP2 [OMIM#300005], PTEN [OMIM #601728], TCF4 [OMIM#602272], UBE3A [OMIM#601623], ZEB2 [OMIM #605802]) Autismus (ALDH5A1[OMIM#610045], AP1S2 [OMIM#300629], ARX [OMIM #300382], ATRX [OMIM#300032], AUTS2 [OMIM#607270], BRAF [OMIM #164757], CASK [OMIM#300172], CHD7 [OMIM#608892], CHD8 [OMIM #610528], CNTNAP2 [OMIM #604569], DHCR7 [OMIM#602858], DPP6 [OMIM#126141], EHMT1 [OMIM#607001], FGD1 [OMIM #300546], FOXG1 [OMIM#164874], FOXP2 [OMIM#605317], GRIN2B [OMIM#138252], HPRT1 [OMIM #308000], KDM5C [OMIM#314690], L1CAM [OMIM#308840], MBD5 [OMIM#611472], MED12 [OMIM #300188], MEF2C [OMIM#600662], MID1 [OMIM#300552], NHS [OMIM #300457], NIPBL [OMIM#608667], NLGN3 [OMIM#300336], NLGN4X [OMIM#300427], NRXN1 [OMIM #600565], NSD1 [OMIM#606681], OPHN1 [OMIM#300127], PCDH19 [OMIM#300460], PHF6 [OMIM #300414], PNKP [OMIM#605610], PQBP1 [OMIM#300463], PTCHD1 [OMIM#300828], PTPN11 [OMIM #176876], RAB39B [OMIM#300774], RAI1 [OMIM#607642], SCN1A [OMIM #182389], SHANK2 [OMIM#603290], SHANK3 [OMIM#606230], SLC9A6 [OMIM#300231], SMARCB1 [OMIM #601607], SMC1A [OMIM#300040], SMC3 [OMIM#606062], TSC1 [OMIM #605284], TSC2 [OMIM#191092], UBE2A [OMIM#312180], VPS13B [OMIM#607817]) Entfristet am: Seite 59 von 213

62 Autosomal-dominante Spinocerebelläre Ataxien (ADGRG1 [OMIM #604110], AFG3L2 [OMIM #604581], CACNA1A [OMIM #601011], CACNA1G [OMIM #604065], CACNB4 [OMIM #601949], CCDC88C [OMIM #611204], DNAJC5 [OMIM #611203], DNMT1 [OMIM #126375], EEF2 [OMIM #130610], ELOVL4 [OMIM #605512], ELOVL5 [OMIM #611805], FGF14 [OMIM #601515], GBA2 [OMIM #609471], ITPR1 [OMIM #147265], KCNA1 [OMIM #176260], KCNC3 [OMIM #176264], KCND3 [OMIM #605411], PDYN [OMIM #131340], PEX10 [OMIM #602859], PEX2 [OMIM #170993], PRKCG [OMIM #176980], SCN2A [OMIM #182390], SLC1A3 [OMIM #600111], SPTBN2 [OMIM #604985], SYT14 [OMIM #610949], TGM6 [OMIM #613900], TMEM240 [OMIM #616101], TRPC3 [OMIM #602345], TTBK2 [OMIM #611695], VAMP1 [OMIM #185880], VLDLR [OMIM #192977]) Entfristet am: Seite 60 von 213

63 Autosomal-rezessive Spinocerebelläre Ataxien (ABCB7[OMIM#300135], ADCK3 [OMIM#606980], ADGRG1 [OMIM#604110], AFG3L2 [OMIM #604581], AHI1 [OMIM#608894], ANO10 [OMIM#613726], APTX [OMIM#606350], ARL13B [OMIM #608922], ATP8A2 [OMIM#605870], ATXN10 [OMIM#611150], C5orf42 [OMIM#614571], CA8 [OMIM #114815], CACNA1G [OMIM #604065], CC2D2A [OMIM#612013], CEP290 [OMIM#610142], CEP41 [OMIM#610523], CLCN2 [OMIM #600570], CLN5 [OMIM#608102], CSPP1 [OMIM#611654], DARS2 [OMIM#610956], DNAJC5 [OMIM #611203], EIF2B1 [OMIM#606686], EIF2B2 [OMIM#606454], EIF2B3 [OMIM#606273], EIF2B4 [OMIM #606687], EIF2B5 [OMIM#603945], FLVCR1 [OMIM#609144], GBA2 [OMIM#609471], GOSR2 [OMIM #604027], GRID2 [OMIM#602368], GRM1 [OMIM#604473], INPP5E [OMIM#613037], KIAA0586 [OMIM #610178], KIF1C [OMIM#603060], KIF7 [OMIM #611254], MARS2 [OMIM #609728], MRE11A [OMIM #600814], MTPAP [OMIM #613669], NPC2 [OMIM #601015], NPHP1 [OMIM #607100], OPA1 [OMIM #605290], PDE6D [OMIM #602676], PEX10 [OMIM #602859], PEX2 [OMIM #170993], PIK3R5 [OMIM #611317], PNKP [OMIM #605610], PNPLA6 [OMIM #603197], POC1B [OMIM #614784], POLG [OMIM #174763], RPGRIP1L [OMIM #610937], SACS [OMIM #604490], SETX [OMIM #608465], SIL1 [OMIM #608005], SNX14 [OMIM #616105], SPG7 [OMIM #602783], SPTBN2 [OMIM #604985], STUB1 [OMIM #607207], SYNE1 [OMIM #608441], SYT14 [OMIM #610949], Fortsetzung der Zeile auf der nächsten Seite Entfristet am: Seite 61 von 213

64 Fortsetzung der Zeile von der vorherigen Seite TCTN1 [OMIM#609863], TCTN2 [OMIM#613846], TCTN3 [OMIM #613847], TDP1 [OMIM#607198], TMEM138 [OMIM#614459], TMEM216 [OMIM#613277], TMEM231 [OMIM#614949], TMEM237 [OMIM#614423], TMEM67 [OMIM#609884], TTC21B [OMIM #612014], VLDLR [OMIM#192977], WWOX [OMIM#605131], ZNF423 [OMIM#604557]) Bardet-Biedl-Syndrom (ALMS1 [OMIM #606844], ARL6 [OMIM #608845], BBIP1 [OMIM #613605], BBS1 [OMIM #209901], BBS10 [OMIM #610148], BBS12 [OMIM #610683], BBS2 [OMIM #606151], BBS4 [OMIM #600374], BBS5 [OMIM #603650], BBS7 [OMIM #607590], BBS9 [OMIM #607968], CCDC28B [OMIM #610162], CEP290 [OMIM #610142], IFT172 [OMIM #607386], IFT27 [OMIM #615870], IFT74 [OMIM #608040], LZTFL1 [OMIM #606568], MKKS [OMIM #604896], MKS1 [OMIM #609883], NPHP1 [OMIM #607100], SDCCAG8 [OMIM #613524], TMEM67 [OMIM #609884], TRIM32 [OMIM #602290], TTC8 [OMIM #608132], WDPCP [OMIM #613580]) Bardet-Biedl-Syndrom (ARL6 [OMIM #608845], BBIP1 [OMIM #613605], BBS1 [OMIM #209901], BBS10 [OMIM #610148], BBS12 [OMIM #610683], BBS2 [OMIM #606151], BBS4 [OMIM #600374], BBS5 [OMIM #603650], BBS7 [OMIM #607590], BBS9 [OMIM #607968], IFT27 [OMIM #615870], LZTFL1 [OMIM #606568], MKKS [OMIM #604896], MKS1 [OMIM #609883], TRIM32 [OMIM #602290], TTC8 [OMIM #608132]) Entfristet am: Seite 62 von 213

65 Bardet-Biedl-Syndrom (ALMS1[OMIM #606844], CCDC28B [OMIM#610162], CEP290 [OMIM#610142], IFT172 [OMIM#607386], IFT74 [OMIM #608040], NPHP1 [OMIM#607100], SDCCAG8 [OMIM#613524], TMEM67 [OMIM#609884], WDPCP [OMIM #613580]) Benigne familiäre Epilepsie (neonatal, infantil) (CHRNA2 [OMIM #118502], KCNQ2 [OMIM #602235], KCNQ3 [OMIM #602232], PRRT2 [OMIM #614386], SCN2A [OMIM #182390], SCN8A [OMIM #600702]) Bikuspide Aortenklappe, mit Risiko für Aortenstenose und Aortenstenose/ -dilatation (GATA5 [OMIM #611496], NOTCH1 [OMIM #190198], SMAD6 [OMIM #602931]) Bikuspide Aortenklappe, mit Risiko für Aortenstenose und Aortenstenose/ - dilatation (GATA5 [OMIM #611496], NOTCH1 [OMIM #190198], SMAD6 [OMIM #602931]), Gendosisbestimmung Entfristet am: Seite 63 von 213

66 Bindegewebserkrankungen / Aortenerkrankungen (ACTA2[OMIM #102620], ADAMTS2 [OMIM #604539], ADAMTSL4 [OMIM #610113], ALDH18A1 [OMIM #138250], ATP6V0A2 [OMIM #611716], ATP6V1A [OMIM#607027], ATP6V1E1 [OMIM#108746], B3GALT6 [OMIM#615291], B4GALT7 [OMIM #604327], BGN [OMIM#301870], C1R [OMIM#613785], C1S [OMIM #120580], CHST14 [OMIM#608429], COL12A1 [OMIM#120320], COL1A1 [OMIM#120150], COL1A2 [OMIM #120160], COL3A1 [OMIM#120180], COL4A1 [OMIM#120130], COL4A2 [OMIM#120090], COL4A5 [OMIM #303630], COL5A1 [OMIM#120215], COL5A2 [OMIM#120190], COL5A3 [OMIM#120216], COL6A1 [OMIM #120220], COL6A2 [OMIM#120240], COL6A3 [OMIM#120250], DSE [OMIM #605942], EFEMP2 [OMIM#604633], ELN [OMIM#130160], EMILIN1 [OMIM#130660], FBLN5 [OMIM #604580], FBN1 [OMIM#134797], FBN2 [OMIM#612570], FKBP14 [OMIM#614505], FLNA [OMIM #300017], FOXE3 [OMIM#601094], GATA5 [OMIM#611496], LOX [OMIM #153455], LTBP2 [OMIM#602091], LTBP4 [OMIM#604710], MAT2A [OMIM#601468], MED12 [OMIM #300188], MFAP5 [OMIM#601103], MYH11 [OMIM#160745], MYLK [OMIM#600922], NOTCH1 [OMIM #190198], PHYKPL [OMIM#614683], PLOD1 [OMIM#153454], PLOD3 [OMIM#603066], PRDM5 [OMIM #614161], PRKG1 [OMIM#176894], PYCR1 [OMIM#179035], SKI [OMIM #164780], SLC2A10 [OMIM#606145], SLC39A13 [OMIM#608735], SMAD2 [OMIM#601366], SMAD3 [OMIM #603109], SMAD4 [OMIM#600993], Fortsetzung der Zeile auf der nächsten Seite Entfristet am: Seite 64 von 213

67 Fortsetzung der Zeile von der vorherigen Seite SMAD6 [OMIM#602931], TGFB2 [OMIM#190220], TGFB3 [OMIM #190230], TGFBR1 [OMIM#190181], TGFBR2 [OMIM#190182], TNXB [OMIM#600985], UPF3B [OMIM #300298], ZDHHC9 [OMIM#300646], ZNF469 [OMIM#612078]) Bindegewebserkrankungen / Skeletterkrankungen (ALX4[OMIM #605420], BMP1 [OMIM#112264], BMP4 [OMIM#112262], CCBE1 [OMIM#612753], CEP120 [OMIM #613446], COL11A1 [OMIM#120280], COL11A2 [OMIM#120290], COL1A1 [OMIM#120150], COL1A2 [OMIM #120160], COL2A1 [OMIM#120140], COL9A1 [OMIM#120210], COL9A2 [OMIM#120260], CRTAP [OMIM #605497], CSPP1 [OMIM#611654], DYNC2H1 [OMIM#603297], DYNC2LI1 [OMIM#617083], EFNB1 [OMIM #300035], ERF [OMIM#611888], ESCO2 [OMIM#609353], EVC [OMIM #604831], EVC2 [OMIM#607261], FGFR1 [OMIM#136350], FGFR2 [OMIM#176943], FGFR3 [OMIM #134934], FKBP10 [OMIM#607063], FREM1 [OMIM#608944], GLI3 [OMIM #165240], IFITM5 [OMIM#614757], IFT122 [OMIM#606045], IFT140 [OMIM#614620], IFT172 [OMIM #607386], IFT43 [OMIM#614068], IFT52 [OMIM#617094], Fortsetzung der Zeile auf der nächsten Seite Entfristet am: Seite 65 von 213

68 Fortsetzung der Zeile von der vorherigen Seite IFT80 [OMIM#611177], IL11RA [OMIM#600939], IMPAD1 [OMIM #614010], IRX5 [OMIM#606195], KIAA0586 [OMIM#610178], KRAS [OMIM#190070], LEPRE1 [OMIM #610339], MEGF8 [OMIM#604267], MSX2 [OMIM#123101], MYH3 [OMIM#160720], NEK1 [OMIM #604588], P3H1 [OMIM#610339], P4HB [OMIM#176790], PLOD2 [OMIM#601865], POR [OMIM #124015], PPIB [OMIM#123841], RAB23 [OMIM#606144], RECQL4 [OMIM#603780], SCARF2 [OMIM #613619], SEC24D [OMIM#607186], SERPINF1 [OMIM#172860], SERPINH1 [OMIM#600943], SKI [OMIM #164780], SP7 [OMIM#606633], SPECC1L [OMIM#614140], STAT3 [OMIM#102582], TCF12 [OMIM#600480], TCTN3 [OMIM #613847], TGFBR1 [OMIM#190181], TGFBR2 [OMIM#190182], TMEM38B [OMIM#611236], TTC21B [OMIM #612014], TWIST1 [OMIM#601622], WDR19 [OMIM#608151], WDR34 [OMIM#613363], WDR35 [OMIM #613602], WDR60 [OMIM#615462], WNT1 [OMIM#164820]) Blutungsneigung (F13A1[OMIM #134570], F13B [OMIM#134580], F7 [OMIM#613878], F8 [OMIM #300841], F9 [OMIM#300746], VWF [OMIM#613160]) BRCAcore- (ATM[OMIM#607585], BRCA1 [OMIM#113705], BRCA2 [OMIM#600185], CDH1 [OMIM #192090], CHEK2 [OMIM# ], MLH1 [OMIM#120436], MSH2 [OMIM#609309], MSH6 [OMIM #600678], NBN [OMIM#602667], PALB2 [OMIM#610355], RAD51C [OMIM#602774], RAD51D [OMIM #602954], STK11 [OMIM#602216], TP53 [OMIM#191170]) EDTA-Blut, EDTA-Knochenmark, Ampliseq, NGS (semiconductor Lithium-Heparin-Blut, Lithium-Heparin-sequencing, Ion PGM-System Knochenmark, DNA aus Blut und Thermofisher) Knochenmark Entfristet am: Seite 66 von 213

69 Brugada-Syndrom (BrS)(CACNA1C [OMIM#114205], CACNB2 [OMIM #600003], GPD1L [OMIM#611778], KCNE3 [OMIM#604433], SCN1B [OMIM#600235], SCN5A [OMIM #600163], TRPM4 [OMIM#606936]) Brugada-Syndrom (BrS)(ABCC9 [OMIM#601439], CACNA1C [OMIM #114205], CACNA2D1 [OMIM #114204], CACNB2 [OMIM#600003], GPD1L [OMIM#611778], HCN4 [OMIM#605206], KCND3 [OMIM #605411], KCNE3 [OMIM#604433], KCNE5 [OMIM#300328], KCNH2 [OMIM#152427], KCNJ8 [OMIM #600935], RANGRF [OMIM#607954], SCN10A [OMIM#604427], SCN1B [OMIM#600235], SCN2B [OMIM #601327], SCN3B [OMIM#608214], SCN5A [OMIM#600163], SLMAP [OMIM#602701], TRPM4 [OMIM #606936]) Brugada-Syndrom (BrS)(CACNA1C [OMIM#114205], CACNB2 [OMIM #600003], GPD1L [OMIM#611778], KCNE3 [OMIM#604433], SCN1B [OMIM#600235], SCN5A [OMIM #600163], TRPM4 [OMIM#606936]) Brugada-Syndrom (BrS) (ABCC9 [OMIM #601439], CACNA1C [OMIM #114205], CACNA2D1 [OMIM #114204], CACNB2 [OMIM #600003], GPD1L [OMIM #611778], HCN4 [OMIM #605206], KCND3 [OMIM #605411], KCNE3 [OMIM #604433], KCNE5 [OMIM #300328], KCNH2 [OMIM #152427], KCNJ8 [OMIM #600935], RANGRF [OMIM #607954], SCN10A [OMIM #604427], SCN1B [OMIM #600235], SCN2B [OMIM #601327], SCN3B [OMIM #608214], SCN5A [OMIM #600163], SLMAP [OMIM #602701], TRPM4 [OMIM #606936]), Gendosisbestimmung Entfristet am: Seite 67 von 213

70 Brustkrebs (BRCA1 [OMIM # ], BRCA2 [OMIM #600185], CHEK2 [OMIM #604373], PALB2 [OMIM #610355], RAD51C [OMIM #602774]) Brustkrebs (ATM [OMIM # ], CDH1 [OMIM #192090], NBN [OMIM #602667], RAD51D [OMIM #602954], TP53 [OMIM #191170]) Cardio-Fazio-Cutanes-Syndrom (CFC) (BRAF [OMIM #164757], KRAS [OMIM #190070], MAP2K1 [OMIM #176872], MAP2K2 [OMIM #601263]) Cardio-Fazio-Cutanes-Syndrom (CFC) (BRAF [OMIM #164757], KRAS [OMIM #190070], MAP2K1 [OMIM #176872], MAP2K2 [OMIM #601263]) Catecholaminerge polymorphe ventrikuläre Tachykardie (CPVT) (CALM1[OMIM#114180], CASQ2 [OMIM#114251], KCNJ2 [OMIM #600681], RYR2 [OMIM#180902]) Catecholaminerge polymorphe ventrikuläre Tachykardie (CPVT) (CALM1[OMIM#114180], CASQ2 [OMIM#114251], KCNJ2 [OMIM #600681], RYR2 [OMIM#180902]),, Gendosisbestimmung Entfristet am: Seite 68 von 213

71 CDG-Syndrom (ALG1[OMIM #605907], ALG11 [OMIM#613666], ALG12 [OMIM#607144], ALG13 [OMIM#300776], ALG2 [OMIM #607905], ALG3 [OMIM#608750], ALG6 [OMIM#604566], ALG8 [OMIM #608103], ALG9 [OMIM#606941], B4GALT1 [OMIM#137060], CAD [OMIM#114010], CCDC115 [OMIM #613734], COG1 [OMIM#606973], COG4 [OMIM#606976], COG5 [OMIM #606821], COG6 [OMIM#606977], COG7 [OMIM#606978], COG8 [OMIM #606979], DDOST [OMIM#602202], DOLK [OMIM#610746], DPAGT1 [OMIM#191350], DPM1 [OMIM #603503], DPM2 [OMIM#603564], DPM3 [OMIM#605951], MGAT2 [OMIM#602616], MOGS [OMIM #601336], MPDU1 [OMIM#604041], MPI [OMIM#154550], NGLY1 [OMIM #610661], PGM1 [OMIM#171900], PMM2 [OMIM#601785], RFT1 [OMIM #611908], SLC35A1 [OMIM#605634], SLC35A2 [OMIM#314375], SLC35C1 [OMIM#605881], SLC39A8 [OMIM #608732], SRD5A3 [OMIM#611715], SSR4 [OMIM#300090], STT3A [OMIM #601134], STT3B [OMIM#608605], TMEM165 [OMIM#614726], TMEM199 [OMIM#616815], TUSC3 [OMIM#601385]) CDG-Syndrom (ALG12 [OMIM #607144], ALG3 [OMIM #608750], ALG6 [OMIM #604566], ALG8 [OMIM #608103], DPM1 [OMIM #603503], MOGS [OMIM #601336], MPDU1 [OMIM #604041], MPI [OMIM #154550], PMM2 [OMIM #601785], SLC35C1 [OMIM #605881], SRD5A3 [OMIM #611715], TUSC3 [OMIM #601385]) Entfristet am: Seite 69 von 213

72 CDG-Syndrom (ALG1[OMIM #605907], ALG11 [OMIM#613666], ALG13 [OMIM#300776], ALG2 [OMIM #607905], ALG9 [OMIM#606941], B4GALT1 [OMIM#137060], CAD [OMIM#114010], CCDC115 [OMIM #613734], COG1 [OMIM#606973], COG4 [OMIM#606976], COG5 [OMIM #606821], COG6 [OMIM#606977], COG7 [OMIM#606978], COG8 [OMIM #606979], DDOST [OMIM#602202], DOLK [OMIM#610746], DPAGT1 [OMIM#191350], DPM2 [OMIM #603564], DPM3 [OMIM#605951], MGAT2 [OMIM#602616], NGLY1 [OMIM#610661], PGM1 [OMIM #171900], RFT1 [OMIM#611908], SLC35A1 [OMIM#605634], SLC35A2 [OMIM#314375], SLC39A8 [OMIM #608732], SSR4 [OMIM#300090], STT3A [OMIM#601134], STT3B [OMIM#608605], TMEM165 [OMIM #614726], TMEM199 [OMIM #616815]) cfbreast- (AKT1[OMIM#164730], BCT-Blut, DNA aus FFPE-Gewebe, DNA Oncomine, NGS semiconductor EGFR [OMIM#131550], ERBB2 [OMIM aus Blut und Tumorgewebe sequencing, Ion PGM- #164870], ERBB3 [OMIM#190151], System,TorrentServer (Thermofisher) ESR1 [OMIM#133430], FBXW7 [OMIM#606278], KRAS [OMIM #190070], PIK3CA [OMIM#171834], SF3B1 [OMIM#605590], TP53 [OMIM #191170]) cfcolon- (AKT1[OMIM#164730], APC BCT-Blut, DNA aus FFPE-Gewebe, DNA Oncomine, NGS semiconductor [OMIM#611731], BRAF [OMIM #164757], CTNNB1 [OMIM#116806], EGFR [OMIM#131550], ERBB2 [OMIM #164870], FBXW7 [OMIM#606278], GNAS [OMIM#139320], KRAS [OMIM #190070], MAP2K1 [OMIM#176872], NRAS [OMIM#164790], PIK3CA [OMIM#171834], SMAD4 [OMIM #600993], TP53 [OMIM#191170]) aus Blut und Tumorgewebe sequencing, Ion PGM- System,TorrentServer (Thermofisher) Entfristet am: Seite 70 von 213

73 cflung- (ALK [OMIM #105590], BRAF [OMIM #164757], EGFR [OMIM #131550], ERBB2 [OMIM #164870], KRAS [OMIM #190070], MAP2K1 [OMIM #176872], MET [OMIM #164860], NRAS [OMIM #164790], PIK3CA [OMIM #171834], ROS1 [OMIM #165020], TP53 [OMIM #191170]) Charcot-Marie-Tooth-Neuropathien Typ 1 und Typ 2 (CMT1; CMT2) (ATL1 [OMIM #606439], DNM2 [OMIM #602378], EGR2 [OMIM #129010], GARS [OMIM #600287], GDAP1 [OMIM #606598], HSPB1 [OMIM #602195], IGHMBP2 [OMIM #600502], KIF1B [OMIM #605995], LITAF [OMIM #603795], MFN2 [OMIM #608507], MPZ [OMIM #159440], NEFL [OMIM #162280], NGF [OMIM #162030], PMP22 [OMIM #601097], RAB7A [OMIM #602298]) Choreatiforme Bewegungsstörungen (ADCY5 [OMIM #600293], ARSA [OMIM #607574], ATM [OMIM #607585], ATN1 [OMIM #607462], ATXN1 [OMIM #601556], ATXN2 [OMIM #601517], ATXN3 [OMIM #607047], ATXN7 [OMIM #607640], FRRS1L [OMIM #604574], FTL [OMIM #134790], GM2A [OMIM #613109], GNAO1 [OMIM #139311], KCNA1 [OMIM #176260], NKX2-1 [OMIM #600635], OPA3 [OMIM #606580], PDE10A [OMIM #610652], PRNP [OMIM #176640], RNF216 [OMIM #609948], SETX [OMIM #608465], TBP [OMIM #600075], VPS13A [OMIM #605978], XK [OMIM #314850]) BCT-Blut DNA aus FFPE-Gewebe, DNA aus Blut und Tumorgewebe Oncomine, NGS semiconductor sequencing, Ion PGM- System,TorrentServer (Thermofisher) Entfristet am: Seite 71 von 213

74 Choreatiforme Bewegungsstörungen Stufe II (ADCY5 [OMIM #600293], ARSA [OMIM #607574], FRRS1L [OMIM #604574], GM2A [OMIM #613109], GNAO1 [OMIM #139311], KCNA1 [OMIM #176260], NKX2-1 [OMIM #600635], PRNP [OMIM #176640], RNF216 [OMIM #609948], VPS13A [OMIM #605978], XK [OMIM #314850]) Choreatiforme Bewegungsstörungen (ATM [OMIM #607585], FTL [OMIM #134790], PDE10A [OMIM #610652], SETX [OMIM #608465]) CMT Typ 2, axonal, autosomaldominant (AARS [OMIM #601065], DYNC1H1 [OMIM #600112], GDAP1 [OMIM #606598], HSPB1 [OMIM #602195], HSPB8 [OMIM #608014], LRSAM1 [OMIM #610933], MFN2 [OMIM #608507], MPZ [OMIM #159440]) Coffin-Siris Syndrom (ARID1A [OMIM #603024], ARID1B [OMIM #614556], SMARCA4 [OMIM #603254], SMARCB1 [OMIM #601607], SMARCE1 [OMIM #603111], SOX11 [OMIM #600898]) Colon und Lunge- (AKT1[OMIM DNA aus FFPE-Gewebe, DNA aus #164730], BRAF [OMIM#164757], Tumorgewebe CTNNB1 [OMIM#116806], DDR2 [OMIM#191311], EGFR [OMIM #131550], ERBB2 [OMIM#164870], ERBB4 [OMIM#600543], FBXW7 [OMIM#606278], FGFR1 [OMIM #136350], FGFR2 [OMIM#176943], FGFR3 [OMIM#134934], KRAS [OMIM #190070], MAP2K1 [OMIM#176872], MET [OMIM#164860], NOTCH1 [OMIM#190198], NRAS [OMIM #164790], PIK3CA [OMIM#171834], PTEN [OMIM#601728], SMAD4 [OMIM#600993], STK11 [OMIM #602216], TP53 [OMIM#191170]) Ampliseq, NGS semiconductor sequencing, Ion PGM-System (Thermofisher), JSI medical systems SeqNext Entfristet am: Seite 72 von 213

75 Congenitale Defekte der Glykosylierung (CDG)(ALG1[OMIM #605907], ALG11 [OMIM#613666], ALG12 [OMIM#607144], ALG13 [OMIM#300776], ALG2 [OMIM #607905], ALG3 [OMIM#608750], ALG6 [OMIM#604566], ALG8 [OMIM #608103], ALG9 [OMIM#606941], B4GALT1 [OMIM#137060], CAD [OMIM#114010], CCDC115 [OMIM #613734], COG1 [OMIM#606973], COG4 [OMIM#606976], COG5 [OMIM #606821], COG6 [OMIM#606977], COG7 [OMIM#606978], COG8 [OMIM #606979], DDOST [OMIM#602202], DOLK [OMIM#610746], DPAGT1 [OMIM#191350], DPM1 [OMIM #603503], DPM2 [OMIM#603564], DPM3 [OMIM#605951], MGAT2 [OMIM#602616], MOGS [OMIM #601336], MPDU1 [OMIM#604041], MPI [OMIM#154550], NGLY1 [OMIM #610661], PGM1 [OMIM#171900], PMM2 [OMIM#601785], RFT1 [OMIM #611908], SLC35A1 [OMIM#605634], SLC35A2 [OMIM#314375], SLC35C1 [OMIM #605881], SLC39A8 [OMIM#608732], SRD5A3 [OMIM#611715], SSR4 [OMIM#300090], STT3A [OMIM #601134], STT3B [OMIM#608605], TMEM165 [OMIM#614726], TMEM199 [OMIM#616815], TUSC3 [OMIM#601385]) Congenitale Defekte der Glykosylierung (CDG)(ALG12[OMIM #607144], ALG3 [OMIM#608750], ALG6 [OMIM#604566], ALG8 [OMIM #608103], DPM1 [OMIM#603503], MOGS [OMIM#601336], MPDU1 [OMIM#604041], MPI [OMIM #154550], PMM2 [OMIM#601785], SLC35C1 [OMIM#605881], SRD5A3 [OMIM#611715], TUSC3 [OMIM #601385]) Entfristet am: Seite 73 von 213

76 Core-Myopathien (ACTA1[OMIM #102610], BIN1 [OMIM#601248], DNM2 [OMIM#602378], MTM1 [OMIM#300415], RYR1 [OMIM #180901], SEPN1 [OMIM#606210], TPM2 [OMIM#190990], TPM3 [OMIM #191030], TTN [OMIM#188840]) Core-Myopathien Stufe I (RYR1 [OMIM #180901]) Core-Myopathien Stufe II (ACTA1 [OMIM#102610], BIN1 [OMIM #601248], DNM2 [OMIM#602378], MTM1 [OMIM#300415], SEPN1 [OMIM#606210], TPM3 [OMIM #191030]) Core-Myopathien (TPM2[OMIM #190990], TTN [OMIM#188840]) Cornelia-de-Lange-Syndrom (HDAC8 [OMIM#300269], NIPBL [OMIM #608667], RAD21 [OMIM#606462], SMC1A [OMIM#300040], SMC3 [OMIM#606062]) Costello-Syndrom (HRAS[OMIM #190020]) Costello-Syndrom (HRAS [OMIM #190020]) Cutis laxa (ALDH18A1[OMIM #138250], ATP6V0A2 [OMIM #611716], ATP6V1A [OMIM#607027], ATP6V1E1 [OMIM#108746], EFEMP2 [OMIM#604633], ELN [OMIM #130160], FBLN5 [OMIM#604580], LTBP4 [OMIM#604710], PYCR1 [OMIM#179035]), Gendosisbestimmung Entfristet am: Seite 74 von 213

77 Cystische Fibrose (Mukoviszidose, CF) (CFTR [OMIM #602421]) Cystische Fibrose (Mukoviszidose, CF) (CFTR [OMIM #602421]) Dilatative Kardiomyopathie (DCM) (ABCC9[OMIM#601439], ACTC1 [OMIM#102540], ACTN2 [OMIM #102573], ANKRD1 [OMIM#609599], BAG3 [OMIM#603883], CALR3 [OMIM#611414], CASQ2 [OMIM #114251], CAV3 [OMIM#601253], CRYAB [OMIM#123590], CSRP3 [OMIM#600824], DES [OMIM #125660], DMD [OMIM#300377], DSP [OMIM#125647], FKTN [OMIM #607440], ILK [OMIM#602366], JPH2 [OMIM#605267], LAMA4 [OMIM #600133], LAMP2 [OMIM#309060], LDB3 [OMIM#605906], LMNA [OMIM #150330], MYBPC3 [OMIM#600958], MYH6 [OMIM#160710], MYH7 [OMIM#160760], MYL2 [OMIM #160781], MYL3 [OMIM#160790], MYLK2 [OMIM#606566], MYOZ2 [OMIM#605602], MYPN [OMIM #608517], NEBL [OMIM#605491], NEXN [OMIM#613121], PLN [OMIM #172405], PRDM16 [OMIM#605557], PRKAG2 [OMIM#602743], RAF1 [OMIM#164760], RBM20 [OMIM #613171], SCN5A [OMIM#600163], SGCD [OMIM#601411], TAZ [OMIM#300394], TCAP [OMIM #604488], TNNC1 [OMIM#191040], TNNI3 [OMIM#191044], TNNT2 [OMIM#191045], TPM1 [OMIM #191010], TTN [OMIM#188840], VCL [OMIM#193065]), Gendosisbestimmung Entfristet am: Seite 75 von 213

78 Dilatative Kardiomyopathie (DCM) (ACTN2 [OMIM #102573], BAG3 [OMIM #603883], DES [OMIM #125660], LMNA [OMIM #150330], MYBPC3 [OMIM #600958], MYH7 [OMIM #160760], PLN [OMIM #172405], RBM20 [OMIM #613171], TAZ [OMIM #300394], TNNI3 [OMIM #191044], TNNT2 [OMIM #191045], TPM1 [OMIM #191010]) Dilatative Kardiomyopathie (DCM) (ABCC9 [OMIM #601439], ACTC1 [OMIM #102540], ANKRD1 [OMIM #609599], BAG3 [OMIM #603883], CALR3 [OMIM #611414], CASQ2 [OMIM #114251], CAV3 [OMIM #601253], CRYAB [OMIM #123590], CSRP3 [OMIM #600824], DMD [OMIM #300377], DSP [OMIM #125647], FKTN [OMIM #607440], ILK [OMIM #602366], JPH2 [OMIM #605267], LAMA4 [OMIM #600133], LAMP2 [OMIM #309060], LDB3 [OMIM #605906], MYH6 [OMIM #160710], MYL2 [OMIM #160781], MYL3 [OMIM #160790], MYLK2 [OMIM #606566], MYOZ2 [OMIM #605602], MYPN [OMIM #608517], NEBL [OMIM #605491], NEXN [OMIM #613121], PRDM16 [OMIM #605557], PRKAG2 [OMIM #602743], RAF1 [OMIM #164760], SCN5A [OMIM #600163], SGCD [OMIM #601411], TCAP [OMIM #604488], TNNC1 [OMIM #191040], TTN [OMIM #188840], VCL [OMIM #193065]) Entfristet am: Seite 76 von 213

79 Dilatative Kardiomyopathie (DCM) (ACTN2 [OMIM #102573], BAG3 [OMIM #603883], DES [OMIM #125660], LMNA [OMIM #150330], MYBPC3 [OMIM #600958], MYH7 [OMIM #160760], PLN [OMIM #172405], RBM20 [OMIM #613171], TAZ [OMIM #300394], TNNI3 [OMIM #191044], TNNT2 [OMIM #191045], TPM1 [OMIM #191010]) Dravet-Syndrom (GABRD [OMIM #137163], GABRG2 [OMIM #137164], PCDH19 [OMIM #300460], SCN1A [OMIM #182389], SCN1B [OMIM #600235], SCN2A [OMIM #182390], SCN9A [OMIM #603415]) Dystroglycanopathien Typ A (mit Gehirn- und Augenanomalien) (B3GALNT2[OMIM#610194], B3GNT1 [OMIM#605517], DAG1 [OMIM #128239], FKRP [OMIM#606596], FKTN [OMIM#607440], GMPPB [OMIM#615320], ISPD [OMIM #614631], LARGE [OMIM#603590], POMGNT1 [OMIM#606822], POMGNT2 [OMIM#614828], POMK [OMIM#615247], POMT1 [OMIM #607423], POMT2 [OMIM#607439], TMEM5 [OMIM#605862]) Dystroglycanopathien Typ B (Kongenital, mit mentaler Retardierung) und Typ C (DAG1 [OMIM #128239], FKRP [OMIM #606596], FKTN [OMIM #607440], GMPPB [OMIM #615320], ISPD [OMIM #614631], LARGE [OMIM #603590], POMGNT1 [OMIM #606822], POMK [OMIM #615247], POMT1 [OMIM #607423], POMT2 [OMIM #607439]), Gendosisbestimmung Entfristet am: Seite 77 von 213

80 Ehlers-Danlos-Syndrom (EDS) (ADAMTS2[OMIM#604539], ALDH18A1 [OMIM#138250], ATP6V0A2 [OMIM#611716], ATP6V1A [OMIM#607027], ATP6V1E1 [OMIM#108746], B3GALT6 [OMIM #615291], B4GALT7 [OMIM#604327], C1R [OMIM#613785], C1S [OMIM #120580], CHST14 [OMIM#608429], COL12A1 [OMIM#120320], COL1A1 [OMIM#120150], COL1A2 [OMIM #120160], COL3A1 [OMIM#120180], COL5A1 [OMIM#120215], COL5A2 [OMIM#120190], COL5A3 [OMIM #120216], COL6A1 [OMIM#120220], COL6A2 [OMIM#120240], COL6A3 [OMIM#120250], DSE [OMIM #605942], EFEMP2 [OMIM#604633], ELN [OMIM#130160], EMILIN1 [OMIM#130660], FBLN5 [OMIM #604580], FKBP14 [OMIM#614505], FLNA [OMIM#300017], LTBP4 [OMIM #604710], PHYKPL [OMIM#614683], PLOD1 [OMIM#153454], PLOD3 [OMIM #603066], PRDM5 [OMIM#614161], PYCR1 [OMIM#179035], SLC2A10 [OMIM#606145], SLC39A13 [OMIM #608735], TNXB [OMIM#600985], ZNF469 [OMIM#612078]) Ehlers-Danlos-Syndrom, Arthrochalasis Typ (aeds)(col1a1 [OMIM#120150], COL1A2 [OMIM #120160]) Ehlers-Danlos-Syndrom, Arthrochalasis Typ (aeds)(col1a1 [OMIM#120150], COL1A2 [OMIM #120160]) Ehlers-Danlos-Syndrom, autosomaldominante Subtypen (COL1A1[OMIM #120150], COL1A2 [OMIM#120160], COL3A1 [OMIM#120180], COL5A1 [OMIM#120215], COL5A2 [OMIM #120190]), Entfristet am: Seite 78 von 213

81 Ehlers-Danlos-Syndrom, autosomaldominante Subtypen (COL1A1 [OMIM #120150], COL1A2 [OMIM #120160], COL3A1 [OMIM #120180], COL5A1 [OMIM #120215], COL5A2 [OMIM #120190]) Ehlers-Danlos-Syndrom, autosomalrezessive Subtypen (ADAMTS2 [OMIM #604539], B3GALT6 [OMIM #615291], B4GALT7 [OMIM #604327], CHST14 [OMIM #608429], COL1A2 [OMIM #120160], DSE [OMIM #605942], FKBP14 [OMIM #614505], PLOD1 [OMIM #153454], SLC39A13 [OMIM #608735]) Ehlers-Danlos-Syndrom, klassischer Typ (ceds)(col1a1[omim#120150], COL5A1 [OMIM#120215], COL5A2 [OMIM#120190], COL5A3 [OMIM #120216]) Ehlers-Danlos-Syndrom, klassischer Typ (ceds)(col1a1[omim#120150], COL5A1 [OMIM#120215], COL5A2 [OMIM#120190], COL5A3 [OMIM #120216]) Ehlers-Danlos-Syndrom, seltene Formen, Differenzialdiagnosen (C1R [OMIM#613785], C1S [OMIM #120580], COL12A1 [OMIM#120320], COL6A1 [OMIM#120220], COL6A2 [OMIM#120240], COL6A3 [OMIM #120250], EMILIN1 [OMIM#130660], FLNA [OMIM#300017], PHYKPL [OMIM#614683], PLOD3 [OMIM #603066], PRDM5 [OMIM#614161], SLC2A10 [OMIM#606145], ZNF469 [OMIM#612078]) Emery-Dreifuß Muskeldystrophie (EMD [OMIM #300384], FHL1 [OMIM #300163], LMNA [OMIM #150330], SYNE2 [OMIM #608442]), Gendosisbestimmung, Gendosisbestimmung Entfristet am: Seite 79 von 213

82 Entwicklungsstörungen (AARS[OMIM #601065], ACSL4 [OMIM#300157], ACTB [OMIM#102630], ACTG1 [OMIM#102560], ADAT3 [OMIM #615302], ADNP [OMIM#611386], AGTR2 [OMIM#300034], AHDC1 [OMIM#615790], AIFM1 [OMIM #300169], AKT3 [OMIM#611223], ALDH5A1 [OMIM#610045], ALG1 [OMIM#605907], ALG11 [OMIM #613666], ALG12 [OMIM#607144], ALG13 [OMIM#300776], ALG2 [OMIM #607905], ALG3 [OMIM#608750], ALG6 [OMIM#604566], ALG8 [OMIM #608103], ALG9 [OMIM#606941], AMER1 [OMIM#300647], ANKRD11 [OMIM#611192], AP1S2 [OMIM #300629], ARHGEF6 [OMIM#300267], ARHGEF9 [OMIM#300429], ARID1A [OMIM#603024], ARID1B [OMIM #614556], ARX [OMIM#300382], ASPA [OMIM#608034], ASPM [OMIM #605481], ATP6AP2 [OMIM#300556], ATP7A [OMIM#300011], ATRX [OMIM #300032], AUTS2 [OMIM#607270], B4GALT1 [OMIM#137060], BCOR [OMIM#300485], BDNF [OMIM #113505], BRAF [OMIM#164757], BRWD3 [OMIM#300553], C12orf57 [OMIM#615140], CA8 [OMIM #114815], CACNA1C [OMIM #114205], CACNG2 [OMIM#602911], CAD [OMIM#114010], CASC5 [OMIM #609173], CASK [OMIM#300172], CBL [OMIM#165360], CC2D1A [OMIM #610055], CCDC115 [OMIM#613734], Fortsetzung der Zeile auf der nächsten Seite Entfristet am: Seite 80 von 213

83 Fortsetzung der Zeile von der vorherigen Seite CCDC22 [OMIM#300859], CCND2 [OMIM#123833], CDH15 [OMIM #114019], CDK5RAP2 [OMIM #608201], CDK6 [OMIM#603368], CDKL5 [OMIM#300203], CDKN1C [OMIM#600856], CENPE [OMIM #117143], CENPJ [OMIM#609279], CEP135 [OMIM#611423], CEP152 [OMIM#613529], CHAMP1 [OMIM #616327], CHD7 [OMIM#608892], CHD8 [OMIM#610528], CLCN4 [OMIM#302910], CLIC2 [OMIM #300138], CNTNAP2 [OMIM #604569], COG1 [OMIM#606973], COG4 [OMIM#606976], COG5 [OMIM #606821], COG6 [OMIM#606977], COG7 [OMIM#606978], COG8 [OMIM #606979], COL4A3BP [OMIM#604677], CRADD [OMIM#603454], CRBN [OMIM #609262], CREBBP [OMIM#600140], CTCF [OMIM#604167], CTNNB1 [OMIM#116806], CUL4B [OMIM #300304], DCX [OMIM#300121], DDOST [OMIM#602202], DDX3X [OMIM#300160], DEAF1 [OMIM #602635], DHCR24 [OMIM#606418], DHCR7 [OMIM#602858], DIS3L2 [OMIM#614184], DKC1 [OMIM #300126], DLG3 [OMIM#300189], DNM1 [OMIM#602377], DNMT3A [OMIM#602769], DOCK7 [OMIM #615730], DOCK8 [OMIM#611432], DOLK [OMIM#610746], DPAGT1 [OMIM#191350], DPM1 [OMIM #603503], DPM2 [OMIM#603564], DPM3 [OMIM#605951], DPP6 [OMIM #126141], DVL1 [OMIM#601365], DVL3 [OMIM#601368], DYNC1H1 [OMIM#600112], DYRK1A [OMIM #600855], Fortsetzung der Zeile auf der nächsten Seite Entfristet am: Seite 81 von 213

84 Fortsetzung der Zeile von der vorherigen Seite EED [OMIM#605984], EEF1A2 [OMIM #602959], EHMT1 [OMIM#607001], EIF2B5 [OMIM#603945], EP300 [OMIM#602700], EPB41L1 [OMIM #602879], EZH2 [OMIM#601573], FGD1 [OMIM#300546], FLNA [OMIM #300017], FMN2 [OMIM#606373], FOXG1 [OMIM#164874], FOXP1 [OMIM#605515], FOXP2 [OMIM #605317], FTSJ1 [OMIM#300499], GABRA1 [OMIM#137160], GALT [OMIM#606999], GATAD2B [OMIM #614998], GCDH [OMIM#608801], GDI1 [OMIM#300104], GFAP [OMIM #137780], GIMAP1 [OMIM#608084], GK [OMIM#300474], GLI3 [OMIM #165240], GNAO1 [OMIM#139311], GNAQ [OMIM#600998], GPC3 [OMIM#300037], GPSM2 [OMIM#609245], GRIA3 [OMIM #305915], GRIK2 [OMIM#138244], GRIN1 [OMIM#138249], GRIN2A [OMIM#138253], GRIN2B [OMIM #138252], HCCS [OMIM#300056], HCFC1 [OMIM#300019], HCN1 [OMIM#602780], HDAC4 [OMIM #605314], HDAC8 [OMIM#300269], HEPACAM [OMIM#611642], HERC1 [OMIM#605109], HERC2 [OMIM #605837], HPRT1 [OMIM#308000], HRAS [OMIM#190020], HUWE1 [OMIM#300697], IDS [OMIM #300823], IKBKG [OMIM#300248], IL1RAPL1 [OMIM#300206], IMAP1 [OMIM#608084], IMPA1 [OMIM #602064], IQSEC2 [OMIM#300522], ITPA [OMIM#147520], KANSL1 [OMIM#612452], KAT6A [OMIM #601408], KCNA2 [OMIM#176262], KCNB1 [OMIM#600397], KCNQ2 [OMIM#602235], KCNT1 [OMIM #608167], Fortsetzung der Zeile auf der nächsten Seite Entfristet am: Seite 82 von 213

85 Fortsetzung der Zeile von der vorherigen Seite KDM5C [OMIM#314690], KDM6A [OMIM#300128], KIAA0196 [OMIM #610657], KIAA2022 [OMIM #300524], KIF1A [OMIM#601255], KIF7 [OMIM#611254], KIRREL3 [OMIM#607761], KMT2A [OMIM #159555], KMT2D [OMIM#602113], KPTN [OMIM#615620], KRAS [OMIM #190070], L1CAM [OMIM#308840], LAMP2 [OMIM#309060], LAS1L [OMIM#300964], LINS [OMIM #610350], LZTR1 [OMIM#600574], MAN1B1 [OMIM#604346], MAOA [OMIM#309850], MAP2K1 [OMIM #176872], MAP2K2 [OMIM#601263], MBD5 [OMIM#611472], MBOAT7 [OMIM#606048], MBTPS2 [OMIM #300294], MCPH1 [OMIM#607117], MECP2 [OMIM#300005], MED12 [OMIM#300188], MED23 [OMIM #605042], MEF2C [OMIM#600662], METTL23 [OMIM#615262], MFSD2A [OMIM#614397], MGAT2 [OMIM #602616], MID1 [OMIM#300552], MLC1 [OMIM #605908], MOGS [OMIM#601336], MPDU1 [OMIM#604041], MPI [OMIM #154550], MRAS [OMIM#608435], MTOR [OMIM#601231], MYT1L [OMIM#613084], NAA10 [OMIM #300013], NDP [OMIM#300658], NDST1 [OMIM#600853], NDUFA1 [OMIM#300078], NFIX [OMIM #164005], NGLY1 [OMIM#610661], NHS [OMIM#300457], NIPBL [OMIM #608667], NLGN3 [OMIM#300336], NLGN4X [OMIM#300427], NONO [OMIM#300084], NRAS [OMIM #164790], NRXN1 [OMIM#600565], Fortsetzung der Zeile auf der nächsten Seite Entfristet am: Seite 83 von 213

86 Fortsetzung der Zeile von der vorherigen Seite NSD1 [OMIM#606681], NSDHL [OMIM#300275], NSUN2 [OMIM #610916], NTNG1 [OMIM#608818], OCRL [OMIM#300535], OFD1 [OMIM #300170], OPHN1 [OMIM#300127], OTC [OMIM#300461], PACS1 [OMIM #607492], PAK3 [OMIM#300142], PCDH11X [OMIM#300246], PCDH19 [OMIM#300460], PCNT [OMIM #605925], PDHA1 [OMIM#300502], PGAP1 [OMIM#611655], PGAP2 [OMIM#615187], PGAP3 [OMIM #611801], PGK1 [OMIM#311800], PGM1 [OMIM#171900], PHC1 [OMIM #602978], PHF6 [OMIM#300414], PHF8 [OMIM#300560], PIGA [OMIM #311770], PIGG [OMIM#616918], PIGL [OMIM#605947], PIGM [OMIM #610273], PIGN [OMIM#606097], PIGO [OMIM#614730], PIGT [OMIM #610272], PIGV [OMIM#610274], PIGW [OMIM#610275], PIGY [OMIM #610662], PIK3R2 [OMIM#603157], PLP1 [OMIM #300401], PMM2 [OMIM #601785], PNKP [OMIM #605610], POGZ [OMIM #614787], PORCN [OMIM #300651], PPP1CB [OMIM #600590], PPP2R1A [OMIM #605983], PPP2R5D [OMIM #601646], PQBP1 [OMIM #300463], PRPS1 [OMIM #311850], PRSS12 [OMIM #606709], PTCH1 [OMIM #601309], PTCH2 [OMIM #603673], PTCHD1 [OMIM #300828], PTEN [OMIM #601728], PTPN11 [OMIM #176876], PURA [OMIM #600473], RAB39B [OMIM #300774], RAD21 [OMIM #606462], RAF1 [OMIM #164760], RAI1 [OMIM #607642], RASA2 [OMIM #601589], Fortsetzung der Zeile auf der nächsten Seite Entfristet am: Seite 84 von 213

87 Fortsetzung der Zeile von der vorherigen Seite RASA3 [OMIM#605182], RBM10 [OMIM#300080], RFT1 [OMIM #611908], RIT1 [OMIM#609591], RNF135 [OMIM#611358], ROR2 [OMIM#602337], RPS6KA3 [OMIM #300075], RRAS [OMIM#165090], SASS6 [OMIM#609321], SCN1A [OMIM#182389], SCN2A [OMIM #182390], SCN8A [OMIM#600702], SCN9A [OMIM#603415], SETBP1 [OMIM#611060], SETD2 [OMIM #612778], SETD5 [OMIM#615743], SHANK2 [OMIM#603290], SHANK3 [OMIM#606230], SHOC2 [OMIM #602775], SIK1 [OMIM#605705], SLC12A5 [OMIM#606726], SLC13A5 [OMIM#608305], SLC16A2 [OMIM #300095], SLC25A22 [OMIM #609302], SLC35A1 [OMIM#605634], SLC35A2 [OMIM#314375], SLC35C1 [OMIM #605881], SLC39A8 [OMIM#608732], SLC6A17 [OMIM#610299], SLC6A8 [OMIM#300036], SLC9A6 [OMIM #300231], SMARCA2 [OMIM #600014], SMARCA4 [OMIM #603254], SMARCB1 [OMIM #601607], SMARCE1 [OMIM #603111], SMC1A [OMIM#300040], SMC3 [OMIM#606062], SMS [OMIM #300105], SNX14 [OMIM#616105], SON [OMIM#182465], SOS1 [OMIM #182530], SOS2 [OMIM#601247], SOX11 [OMIM#600898], SOX5 [OMIM #604975], SPTAN1 [OMIM#182810], SRCAP [OMIM#611421], SRD5A3 [OMIM#611715], SSR4 [OMIM #300090], ST3GAL3 [OMIM#606494], STIL [OMIM#181590], STT3A [OMIM #601134], STT3B [OMIM#608605], STXBP1 [OMIM#602926], SUFU [OMIM#607035], SYN1 [OMIM #313440], Fortsetzung der Zeile auf der nächsten Seite Entfristet am: Seite 85 von 213

88 Fortsetzung der Zeile von der vorherigen Seite SYNGAP1 [OMIM#603384], SYP [OMIM#313475], SZT2 [OMIM #615463], TAF1 [OMIM#313650], TAF2 [OMIM#604912], TBC1D24 [OMIM#613577], TBC1D7 [OMIM#612655], TCF4 [OMIM #602272], TECR [OMIM#610057], THOC2 [OMIM#300395], TIMM8A [OMIM#300356], TM4SF20 [OMIM #615404], TMCO1 [OMIM#614123], TMEM165 [OMIM#614726], TMEM199 [OMIM#616815], TRAPPC9 [OMIM#611966], TSC1 [OMIM #605284], TSC2 [OMIM#191092], TSPAN7 [OMIM#300096], TTI2 [OMIM#614426], TUBA1A [OMIM #602529], TUBA8 [OMIM#605742], TUBB [OMIM#191130], TUBB2A [OMIM#615101], TUBB2B [OMIM #612850], TUBB3 [OMIM#602661], TUBG1 [OMIM#191135], TUSC3 [OMIM#601385], UBE2A [OMIM #312180], UBE3A [OMIM#601623], UPF3B [OMIM#300298], USP9X [OMIM#300072], VPS13B [OMIM #607817], WDR45 [OMIM#300526], WDR62 [OMIM#613583], WNT5A [OMIM#164975], WWOX [OMIM #605131], ZDHHC15 [OMIM#300576], ZDHHC9 [OMIM#300646], ZEB2 [OMIM #605802], ZMYND11 [OMIM #608668], ZNF335 [OMIM#610827], ZNF711 [OMIM#314990], ZNF81 [OMIM#314998]) Entfristet am: Seite 86 von 213

89 Epilepsie (AARS[OMIM#601065], ADGRV1 [OMIM#602851], ALDH7A1 [OMIM#107323], ALG13 [OMIM #300776], AP3B2 [OMIM#602166], ARHGEF15 [OMIM#608504], ARHGEF9 [OMIM#300429], ARV1 [OMIM#611647], ARX [OMIM #300382], ATP1A2 [OMIM#182340], BRAT1 [OMIM#614506], CACNA1A [OMIM#601011], CACNA1H [OMIM #607904], CACNB4 [OMIM#601949], CAD [OMIM#114010], CASR [OMIM #601199], CDKL5 [OMIM#300203], CERS1 [OMIM#606919], CHD2 [OMIM#602119], CHRNA2 [OMIM #118502], CHRNA4 [OMIM#118504], CHRNB2 [OMIM#118507], CLCN2 [OMIM#600570], CLCN4 [OMIM #302910], CPA6 [OMIM#609562], CSTB [OMIM#601145], DCX [OMIM #300121], DENND5A [OMIM #617278], DEPDC5 [OMIM#614191], DNM1 [OMIM#602377], DOCK7 [OMIM#615730], DYRK1A [OMIM #600855], EEF1A2 [OMIM #602959], EFHC1 [OMIM #608815], ELP4 [OMIM #606985], EPM2A [OMIM #607566], FASN [OMIM #600212], FGF12 [OMIM #601513], FOXG1 [OMIM #164874], FRRS1L [OMIM #604574], GABBR2 [OMIM #607340], GABRA1 [OMIM #137160], GABRB1 [OMIM #137190], GABRB3 [OMIM #137192], GABRD [OMIM #137163], Fortsetzung der Zeile auf der nächsten Seite Entfristet am: Seite 87 von 213

90 Fortsetzung der Zeile von der vorherigen Seite GABRG2 [OMIM#137164], GAL [OMIM#137035], GLUL [OMIM #138290], GNAO1 [OMIM#139311], GOSR2 [OMIM#604027], GPHN [OMIM#603930], GRIN2A [OMIM #138253], GRIN2B [OMIM#138252], GRIN2D [OMIM#602717], GUF1 [OMIM#617064], HCN1 [OMIM #602780], HDAC4 [OMIM#605314], IQSEC2 [OMIM#300522], ITPA [OMIM #147520], KCNA1 [OMIM#176260], KCNA2 [OMIM#176262], KCNB1 [OMIM#600397], KCNC1 [OMIM #176258], KCNH5 [OMIM#605716], KCNMA1 [OMIM#600150], KCNQ2 [OMIM#602235], KCNQ3 [OMIM #602232], KCNT1 [OMIM#608167], KCTD7 [OMIM#611725], LGI1 [OMIM#604619], LMNB2 [OMIM #150341], MBD5 [OMIM#611472], MECP2 [OMIM#300005], MEF2C [OMIM#600662], NECAP1 [OMIM #611623], NHLRC1 [OMIM#608072], NIPA2 [OMIM#608146], NPRL2 [OMIM#607072], NPRL3 [OMIM #600928], PCDH19 [OMIM#300460], PIGA [OMIM#311770], PIK3AP1 [OMIM#607942], PLCB1 [OMIM #607120], PNKP [OMIM#605610], PNPO [OMIM#603287], POLG [OMIM #174763], PRDM8 [OMIM#616639], PRICKLE1 [OMIM#608500], PRICKLE2 [OMIM#608501], PRRT2 [OMIM #614386], RANBP2 [OMIM#601181], RANGAP1 [OMIM#602362], RELN [OMIM#600514], ROGDI [OMIM #614574], RYR3 [OMIM#180903], SCARB2 [OMIM#602257], SCN1A [OMIM#182389], SCN1B [OMIM #600235], SCN2A [OMIM#182390], SCN8A [OMIM#600702], SCN9A [OMIM#603415], SIK1 [OMIM #605705], Fortsetzung der Zeile auf der nächsten Seite Entfristet am: Seite 88 von 213

91 SLC12A5 [OMIM #606726], SLC13A5 [OMIM #608305], SLC1A2 [OMIM #600300], SLC25A12 [OMIM #603667], SLC25A22 [OMIM #609302], SLC2A1 [OMIM #138140], SLC35A2 [OMIM #314375], SLC6A1 [OMIM #137165], SPTAN1 [OMIM #182810], SRPX2 [OMIM #300642], ST3GAL3 [OMIM #606494], STX1B [OMIM #601485], STXBP1 [OMIM #602926], SYN1 [OMIM #313440], SYNGAP1 [OMIM #603384], SZT2 [OMIM #615463], TBC1D24 [OMIM #613577], TNK2 [OMIM #606994], UBA5 [OMIM #610552], WWOX [OMIM #605131]) Epilepsie mit erhöhter Therapierelevanz (ALDH7A1 [OMIM #107323], ALG13 [OMIM #300776], KCNQ2 [OMIM #602235], PNPO [OMIM #603287], PRRT2 [OMIM #614386], SCN1A [OMIM #182389], SLC2A1 [OMIM #138140]) Episodische Ataxien (CACNA1A [OMIM#601011], CACNB4 [OMIM #601949], KCNA1 [OMIM#176260], SCN2A [OMIM#182390], SLC1A3 [OMIM#600111]) Familiäre hemiplegische Migräne (FHM)(ATP1A2[OMIM#182340], CACNA1A [OMIM#601011], SCN1A [OMIM#182389]) FAP Gene- (APC [OMIM #611731], BMPR1A [OMIM #601299], MUTYH [OMIM #604933], SMAD4 [OMIM #600993], STK11 [OMIM #602216]) Fortsetzung der Zeile von der vorherigen Seite EDTA-Blut, EDTA-Knochenmark, Ampliseq, NGS semiconductor Lithium-Heparin-Blut, Lithium-Heparin-sequencing, Ion PGM-System Knochenmark, DNA aus FFPE-Gewebe, (Thermofisher), JSI medical systems DNA aus Blut, Knochenmark und SeqNext Tumorgewebe Entfristet am: Seite 89 von 213

92 Fehlbildungen der ableitenden Harnwege (ACTA2 [OMIM #102620], ACTG2 [OMIM #102545], BMP4 [OMIM #112262], BMP7 [OMIM #112267], CHD1L [OMIM #613039], CHRM3 [OMIM #118494], DACH1 [OMIM #603803], DSTYK [OMIM #612666], EYA1 [OMIM #601653], FRAS1 [OMIM #607830], FREM1 [OMIM #608944], FREM2 [OMIM #608945], GATA3 [OMIM #131320], HNF1B [OMIM #189907], HPSE2 [OMIM #613469], ITGA8 [OMIM #604063], LRIG2 [OMIM #608869], PAX2 [OMIM #167409], RET [OMIM #164761], ROBO2 [OMIM #602431], SALL1 [OMIM #602218], SOX17 [OMIM #610928], TBX18 [OMIM #604613], TNXB [OMIM #600985], TRAP1 [OMIM #606219]) Fehlbildungen der ableitenden Harnwege (ACTA2[OMIM#102620], ACTG2 [OMIM#102545], BMP4 [OMIM#112262], CHD1L [OMIM #613039], CHRM3 [OMIM#118494], DSTYK [OMIM#612666], GATA3 [OMIM#131320], HNF1B [OMIM #189907], ITGA8 [OMIM#604063], PAX2 [OMIM#167409], ROBO2 [OMIM#602431], SOX17 [OMIM #610928]) Fehlbildungen der ableitenden Harnwege (BMP7[OMIM#112267], DACH1 [OMIM#603803], EYA1 [OMIM#601653], FRAS1 [OMIM #607830], FREM1 [OMIM#608944], FREM2 [OMIM#608945], HPSE2 [OMIM#613469], LRIG2 [OMIM #608869], RET [OMIM#164761], SALL1 [OMIM#602218], TRAP1 [OMIM#606219]) Entfristet am: Seite 90 von 213

93 Fettstoffwechselerkrankungen (ABCA1 [OMIM #600046], ANGPTL3 [OMIM #604774], APOA1 [OMIM #107680], APOA5 [OMIM #606368], APOB [OMIM #107730], APOC2 [OMIM #608083], APOE [OMIM #107741], GPIHBP1 [OMIM #612757], LCAT [OMIM #606967], LDLR [OMIM #606945], LDLRAP1 [OMIM #605747], LIPC [OMIM #151670], LPL [OMIM #609708], MTTP [OMIM #157147], PCSK9 [OMIM #607786]) Fiebergebundene Anfälle/ Generalisierte Epilepsie mit Fieberkrämpfen Plus (CPA6 [OMIM #609562], GABRD [OMIM #137163], GABRG2 [OMIM #137164], SCN1A [OMIM #182389], SCN1B [OMIM #600235], SCN9A [OMIM #603415], STX1B [OMIM #601485]) Fiebergebundene Anfälle/ Generalisierte Epilepsie mit Fieberkrämpfen Plus (CPA6 [OMIM #609562], GABRD [OMIM #137163], GABRG2 [OMIM #137164], SCN1A [OMIM #182389], SCN1B [OMIM #600235], SCN9A [OMIM #603415], STX1B [OMIM #601485]) Fiebergebundene Anfälle/ Generalisierte Epilepsie mit Fieberkrämpfen Plus (ADGRV1 [OMIM #602851], CPA6 [OMIM #609562], GABRD [OMIM #137163], GABRG2 [OMIM #137164], SCN1A [OMIM #182389], SCN1B [OMIM #600235], SCN9A [OMIM #603415], STX1B [OMIM #601485]), Gendosisbestimmung Entfristet am: Seite 91 von 213

94 Fokale Epilepsie (CHRNA2[OMIM #118502], CHRNA4 [OMIM#118504], CHRNB2 [OMIM#118507], CPA6 [OMIM#609562], DEPDC5 [OMIM #614191], ELP4 [OMIM#606985], GAL [OMIM#137035], GRIN2A [OMIM #138253], KCNA1 [OMIM#176260], KCNT1 [OMIM#608167], LGI1 [OMIM #604619], NPRL2 [OMIM#607072], NPRL3 [OMIM#600928], RELN [OMIM #600514]) Fokale Epilepsien (DEPDC5[OMIM #614191], ELP4 [OMIM#606985], GRIN2A [OMIM#138253], KCNA1 [OMIM#176260], NPRL2 [OMIM #607072], NPRL3 [OMIM#600928]) Frühkindliche epileptische Enzephalopathie (EIEE)(1)(ARX [OMIM#300382], CDKL5 [OMIM #300203], KCNQ2 [OMIM#602235], PCDH19 [OMIM#300460], SCN1A [OMIM#182389], SCN2A [OMIM #182390], STXBP1 [OMIM#602926]) Frühkindliche epileptische Enzephalopathie (EIEE) (2) (DNM1 [OMIM #602377], GABRA1 [OMIM #137160], GABRB3 [OMIM #137192], GNAO1 [OMIM #139311], KCNA2 [OMIM #176262], KCNT1 [OMIM #608167], SCN8A [OMIM #600702], SLC12A5 [OMIM #606726], SLC13A5 [OMIM #608305], UBA5 [OMIM #610552], WWOX [OMIM #605131]) Frühkindliche epileptische Enzephalopathie (EIEE) (3) (GRIN2B [OMIM #138252], HCN1 [OMIM #602780], KCNB1 [OMIM #600397], PIGA [OMIM #311770], PLCB1 [OMIM #607120], PNKP [OMIM #605610], SLC35A2 [OMIM #314375], SPTAN1 [OMIM #182810]) Entfristet am: Seite 92 von 213

95 Frühkindliche epileptische Enzephalopathie (EIEE) (AARS [OMIM #601065], ALG13 [OMIM #300776], AP3B2 [OMIM #602166], ARHGEF9 [OMIM #300429], ARV1 [OMIM #611647], ARX [OMIM #300382], CACNA1A [OMIM #601011], CAD [OMIM #114010], CDKL5 [OMIM #300203], CHD2 [OMIM #602119], DCX [OMIM #300121], DENND5A [OMIM #617278], DNM1 [OMIM #602377], DOCK7 [OMIM #615730], EEF1A2 [OMIM #602959], FASN [OMIM #600212], FGF12 [OMIM #601513], FOXG1 [OMIM #164874], FRRS1L [OMIM #604574], GABBR2 [OMIM #607340], GABRA1 [OMIM #137160], GABRB1 [OMIM #137190], GABRB3 [OMIM #137192], GNAO1 [OMIM #139311], GPHN [OMIM #603930], GRIN2B [OMIM #138252], GRIN2D [OMIM #602717], GUF1 [OMIM #617064], HCN1 [OMIM #602780], ITPA [OMIM #147520], KCNA2 [OMIM #176262], KCNB1 [OMIM #600397], KCNQ2 [OMIM #602235], KCNT1 [OMIM #608167], MECP2 [OMIM #300005], NECAP1 [OMIM #611623], PCDH19 [OMIM #300460], PIGA [OMIM #311770], PLCB1 [OMIM #607120], PNKP [OMIM #605610], POLG [OMIM #174763], RANGAP1 [OMIM #602362], RYR3 [OMIM #180903], SCN1A [OMIM #182389], SCN2A [OMIM #182390], Fortsetzung der Zeile auf der nächsten Seite Entfristet am: Seite 93 von 213

96 Fortsetzung der Zeile von der vorherigen Seite SCN8A [OMIM#600702], SIK1 [OMIM #605705], SLC12A5 [OMIM#606726], SLC13A5 [OMIM#608305], SLC1A2 [OMIM#600300], SLC25A12 [OMIM #603667], SLC25A22 [OMIM #609302], SLC35A2 [OMIM#314375], SPTAN1 [OMIM#182810], ST3GAL3 [OMIM#606494], STXBP1 [OMIM #602926], SYNGAP1 [OMIM#603384], SZT2 [OMIM#615463], TBC1D24 [OMIM#613577], UBA5 [OMIM #610552], WWOX [OMIM#605131]) Fusion Lung- (ALK [OMIM #105590], RET [OMIM #164761], ROS1 [OMIM #165020]) Fusion Sarkom- (ATF [OMIM #606371], CHIC2 [OMIM #604332], EML4 [OMIM #607442], ETV6 [OMIM #600618], EWSR1 [OMIM #133450], FUS [OMIM #137070], NTRK3 [OMIM #191316], PAX3 [OMIM #606597], PAX5 [OMIM #167414], PAX7 [OMIM #167410], SS18 [OMIM #600192]) Fusion AML-ALL- (BCR [OMIM #151410], CBFB [OMIM #121360], DEK [OMIM #125264], ETV6 [OMIM #600618], FUS [OMIM #137070], MLL [OMIM #159555], NPM1 [OMIM #164040], PAX5 [OMIM #167414], PML [OMIM # ], MECOM [OMIM #165215], RUNX1 [OMIM #601399], SET [OMIM #600960], SIL [OMIM #181590], TCF3 [OMIM #147141]) Gemischte Hyperlipoproteinämie (APOA1 [OMIM #107680], APOE [OMIM #107741], LIPC [OMIM #151670]) DNA aus FFPE-Gewebe, RNA aus Tumorgewebe, cdna DNA aus FFPE-Gewebe, RNA aus Tumorgewebe, cdna Ampliseq, NGS semiconductor sequencing, Ion PGM-System, IonReporter (Thermofisher) Ampliseq, NGS semiconductor sequencing, Ion PGM-System, IonReporter (Thermofisher) EDTA-Blut, EDTA-Knochenmark, Ampliseq, NGS semiconductor Lithium-Heparin-Blut, Lithium-Heparin-sequencing, Ion PGM-System, Knochenmark, RNA aus Blut und IonReporter (Thermofisher) Knochenmark, cdna Entfristet am: Seite 94 von 213

97 Generalisierte myoklonische Epilepsien (CACNB4 [OMIM #601949], CASR [OMIM #601199], CERS1 [OMIM #606919], CLCN2 [OMIM #600570], CSTB [OMIM #601145], EFHC1 [OMIM #608815], EPM2A [OMIM #607566], GABRA1 [OMIM #137160], GABRD [OMIM #137163], GOSR2 [OMIM #604027], KCNC1 [OMIM #176258], KCNMA1 [OMIM #600150], KCTD7 [OMIM #611725], LMNB2 [OMIM #150341], NHLRC1 [OMIM #608072], PRDM8 [OMIM #616639], PRICKLE1 [OMIM #608500], PRICKLE2 [OMIM #608501], SCARB2 [OMIM #602257], SLC6A1 [OMIM #137165], TBC1D24 [OMIM #613577]) Gitelman-Syndrom (CLCNKB [OMIM #602023], SLC12A3 [OMIM #600968]) GPI-Ankerdefekte/Hyperphosphatasie-EDTA-Blutmentale Retardierungssyndrom DNA aus Blut (PGAP1[OMIM#611655], PGAP2 [OMIM#615187], PGAP3 [OMIM #611801], PIGA [OMIM#311770], PIGG [OMIM#616918], PIGL [OMIM #605947], PIGM [OMIM#610273], PIGN [OMIM#606097], PIGO [OMIM #614730], PIGT [OMIM#610272], PIGV [OMIM#610274], PIGW [OMIM #610275], PIGY [OMIM#610662]) Großwuchssyndrome (CDKN1C [OMIM #600856], DIS3L2 [OMIM #614184], DNMT3A [OMIM #602769], EED [OMIM #605984], EZH2 [OMIM #601573], GPC3 [OMIM #300037], NFIX [OMIM #164005], NSD1 [OMIM #606681], OFD1 [OMIM #300170]) Hämochromatose Stufe II (BMP6 [OMIM #112266], HAMP [OMIM #606464], HFE [OMIM #613609], HFE2 [OMIM #608374], SLC40A1 [OMIM #604653], TFR2 [OMIM #604720]) Entfristet am: Seite 95 von 213

98 Harnstoffzyklus-Defekt (ARG1 [OMIM #608313], ASL [OMIM #608310], ASS1 [OMIM #603470], CPS1 [OMIM #608307], NAGS [OMIM #608300], OTC [OMIM #300461], SLC25A13 [OMIM #603859], SLC25A15 [OMIM #603861]) Hereditäre Neuropathien (AARS [OMIM #601065], AIFM1 [OMIM #300169], ARHGEF10 [OMIM #608136], ATL1 [OMIM #606439], ATL3 [OMIM #609369], ATP7A [OMIM #300011], BAG3 [OMIM #603883], BSCL2 [OMIM #606158], CCT5 [OMIM #610150], COX6A1 [OMIM #602072], CTDP1 [OMIM #604927], DCTN1 [OMIM #601143], DNM2 [OMIM #602378], DNMT1 [OMIM #126375], DYNC1H1 [OMIM #600112], EGR2 [OMIM #129010], FAM134B [OMIM #613114], FGD4 [OMIM #611104], FIG4 [OMIM #609390], GAN [OMIM #605379], GARS [OMIM #600287], GDAP1 [OMIM #606598], GJB1 [OMIM #304040], HARS [OMIM #142810], HK1 [OMIM #142600], HOXD10 [OMIM #142984], HSPB1 [OMIM #602195], HSPB3 [OMIM #604624], HSPB8 [OMIM #608014], IGHMBP2 [OMIM #600502], IKBKAP [OMIM #603722], KARS [OMIM #601421], KIF1A [OMIM #601255], KIF1B [OMIM #605995], LITAF [OMIM #603795], LMNA [OMIM #150330], LRSAM1 [OMIM #610933], Fortsetzung der Zeile auf der nächsten Seite Entfristet am: Seite 96 von 213

99 Fortsetzung der Zeile von der vorherigen Seite MARS [OMIM#156560], MED25 [OMIM#610197], MFN2 [OMIM #608507], MME [OMIM#120520], MORC2 [OMIM#616661], MPZ [OMIM#159440], MTMR2 [OMIM #603557], NDRG1 [OMIM#605262], NEFH [OMIM#162230], NEFL [OMIM #162280], NGF [OMIM#162030], NTRK1 [OMIM#191315], PLEKHG5 [OMIM#611101], PMP22 [OMIM #601097], PRDM12 [OMIM#616458], PRPS1 [OMIM#311850], PRX [OMIM #605725], RAB7A [OMIM#602298], REEP1 [OMIM#609139], SBF1 [OMIM #603560], SBF2 [OMIM#607697], SCN11A [OMIM#604385], SCN9A [OMIM#603415], SEPT9 [OMIM #604061], SH3TC2 [OMIM#608206], SLC12A6 [OMIM#604878], SLC5A7 [OMIM#608761], SOX10 [OMIM #602229], SPG11 [OMIM#610844], SPTLC1 [OMIM#605712], SPTLC2 [OMIM#605713], SURF1 [OMIM #185620], TDP1 [OMIM#607198], TFG [OMIM#602498], TRIM2 [OMIM #614141], TRPV4 [OMIM#605427], VCP [OMIM#601023], WNK1 [OMIM #605232], YARS [OMIM#603623]) Entfristet am: Seite 97 von 213

100 Hereditäre Neuropathien (AARS [OMIM#601065], ARHGEF10 [OMIM #608136], ATP7A [OMIM#300011], BAG3 [OMIM#603883], BSCL2 [OMIM #606158], CCT5 [OMIM#610150], CTDP1 [OMIM#604927], DCTN1 [OMIM#601143], DYNC1H1 [OMIM #600112], FAM134B [OMIM #613114], FGD4 [OMIM#611104], FIG4 [OMIM#609390], GAN [OMIM #605379], GJB1 [OMIM#304040], HOXD10 [OMIM#142984], HSPB3 [OMIM#604624], HSPB8 [OMIM #608014], IKBKAP [OMIM#603722], KARS [OMIM#601421], LMNA [OMIM #150330], LRSAM1 [OMIM#610933], MED25 [OMIM#610197], MTMR2 [OMIM#603557], NDRG1 [OMIM #605262], NTRK1 [OMIM#191315], PLEKHG5 [OMIM#611101], PRPS1 [OMIM#311850], PRX [OMIM #605725], REEP1 [OMIM#609139], SBF2 [OMIM #607697], SCN9A [OMIM #603415], SEPT9 [OMIM #604061], SH3TC2 [OMIM #608206], SLC12A6 [OMIM #604878], SOX10 [OMIM #602229], SPTLC1 [OMIM #605712], SPTLC2 [OMIM #605713], TDP1 [OMIM #607198], TRPV4 [OMIM #605427], WNK1 [OMIM #605232], YARS [OMIM #603623]) Hereditäre periodische Fiebersyndrome (HPF) (ELANE [OMIM #130130], IL1RN [OMIM #147679], IL36RN [OMIM #605507], LPIN2 [OMIM #605519], MEFV [OMIM #608107], MVK [OMIM #251170], NLRC4 [OMIM #606831], NLRP12 [OMIM #609648], NLRP3 [OMIM #606416], NOD2 [OMIM #605956], PSMB8 [OMIM #177046], PSTPIP1 [OMIM #606347], TMEM173 [OMIM #612374], TNFRSF1A [OMIM #191190]) Entfristet am: Seite 98 von 213

101 Hereditäre periodische Fiebersyndrome (HPF) (ELANE [OMIM #130130], IL1RN [OMIM #147679], IL36RN [OMIM #605507], LPIN2 [OMIM #605519], MEFV [OMIM #608107], MVK [OMIM #251170], NLRC4 [OMIM #606831], NLRP12 [OMIM #609648], NLRP3 [OMIM #606416], NOD2 [OMIM #605956], PSMB8 [OMIM #177046], PSTPIP1 [OMIM #606347], TMEM173 [OMIM #612374], TNFRSF1A [OMIM #191190]) Hereditäre sensorische (autonome) Neuropathie 1 und 2 (ATL1 [OMIM #606439], ATL3 [OMIM #609369], DNMT1 [OMIM #126375], FAM134B [OMIM #613114], KIF1A [OMIM #601255], SPTLC1 [OMIM #605712], SPTLC2 [OMIM #605713]) Hereditäre Sphärozytose (HS)(ANK1 [OMIM#612641], EPB42 [OMIM #177070], SLC4A1 [OMIM#109270], SPTA1 [OMIM#182860], SPTB [OMIM #182870]) Hereditäre Sphärozytose (HS)(ANK1 [OMIM#612641], EPB42 [OMIM #177070], SLC4A1 [OMIM#109270], SPTA1 [OMIM#182860], SPTB [OMIM #182870]) Herzerkrankungen (A2ML1[OMIM #610627], ABCC9 [OMIM#601439], ACTC1 [OMIM#102540], ACTN2 [OMIM#102573], ACVR2B [OMIM #602730], ADAMTS10 [OMIM #608990], AKAP9 [OMIM#604001], ANK2 [OMIM#106410], ANKRD1 [OMIM#609599], ARHGAP31 [OMIM #610911], BAG3 [OMIM#603883], BMPR2 [OMIM#600799], BRAF [OMIM#164757], Fortsetzung der Zeile auf der nächsten Seite, Gendosisbestimmung, Gendosisbestimmung Entfristet am: Seite 99 von 213

102 Fortsetzung der Zeile von der vorherigen Seite CACNA1C [OMIM#114205], CACNA2D1 [OMIM#114204], CACNB2 [OMIM#600003], CALM1 [OMIM #114180], CALM2 [OMIM#114182], CALR3 [OMIM#611414], CASQ2 [OMIM#114251], CAV3 [OMIM #601253], CBL [OMIM#165360], CFAP53 [OMIM#614759], CFC1 [OMIM#605194], CHD7 [OMIM #608892], CITED2 [OMIM#602937], CREBBP [OMIM#600140], CRELD1 [OMIM#607170], CRYAB [OMIM #123590], CSRP3 [OMIM#600824], DES [OMIM#125660], DMD [OMIM #300377], DNAH11 [OMIM#603339], DNAH5 [OMIM#603335], DNAI1 [OMIM#604366], DOCK6 [OMIM#614194], DSC2 [OMIM#125645], DSG2 [OMIM #125671], DSP [OMIM#125647], DTNA [OMIM#601239], EHMT1 [OMIM#607001], ELN [OMIM #130160], EOGT [OMIM#614789], EP300 [OMIM#602700], EVC [OMIM #604831], EVC2 [OMIM#607261], FBN1 [OMIM#134797], FBN2 [OMIM #612570], FKTN [OMIM#607440], FLNA [OMIM#300017], FOXC1 [OMIM #601090], FOXH1 [OMIM#603621], FOXP1 [OMIM#605515], GATA4 [OMIM#600576], GATA5 [OMIM #611496], GATA6 [OMIM#601656], GDF1 [OMIM#602880], Gx1 [OMIM #121014], GPC3 [OMIM#300037], GPD1L [OMIM#611778], HCN4 [OMIM#605206], HRAS [OMIM #190020], ILK [OMIM#602366], xg1 [OMIM#601920], JPH2 [OMIM #605267], JUP [OMIM#173325], KCND3 [OMIM#605411], KCNE1 [OMIM#176261], KCNE2 [OMIM #603796], KCNE3 [OMIM#604433], KCNE5 [OMIM#300328], KCNH2 [OMIM#152427], Fortsetzung der Zeile auf der nächsten Seite Entfristet am: Seite 100 von 213

103 Fortsetzung der Zeile von der vorherigen Seite KCNJ2 [OMIM#600681], KCNJ5 [OMIM#600734], KCNJ8 [OMIM #600935], KCNQ1 [OMIM#607542], KDM6A [OMIM#300128], KMT2D [OMIM#602113], KRAS [OMIM #190070], LAMA4 [OMIM#600133], LAMP2 [OMIM#309060], LDB3 [OMIM#605906], LEFTY2 [OMIM #601877], LMNA [OMIM#150330], LRP1 [OMIM#107770], LZTR1 [OMIM #600574], MAP2K1 [OMIM#176872], MAP2K2 [OMIM#601263], MED12 [OMIM#300188], MED13L [OMIM #608771], MGP [OMIM#154870], MMP21 [OMIM#608416], MYBPC3 [OMIM#600958], MYH11 [OMIM #160745], MYH6 [OMIM#160710], MYH7 [OMIM#160760], MYL2 [OMIM #160781], MYL3 [OMIM#160790], MYLK2 [OMIM#606566], MYOZ2 [OMIM#605602], MYPN [OMIM #608517], NEBL [OMIM#605491], NEXN [OMIM#613121], NF1 [OMIM #613113], NIPBL [OMIM#608667], NKX2-5 [OMIM#600584], NKX2-6 [OMIM#611770], NODAL [OMIM #601265], NOTCH1 [OMIM#190198], NOTCH2 [OMIM#600275], NPHP4 [OMIM#607215], NR2F2 [OMIM#107773], NRAS [OMIM #164790], NSD1 [OMIM#606681], PITX2 [OMIM#601542], PKD1L1 [OMIM#609721], PKP2 [OMIM #602861], PLN [OMIM#172405], PPP1CB [OMIM#600590], PRDM16 [OMIM#605557], PRKAG2 [OMIM #602743], PTPN11 [OMIM#176876], Fortsetzung der Zeile auf der nächsten Seite Entfristet am: Seite 101 von 213

104 Fortsetzung der Zeile von der vorherigen Seite RAF1 [OMIM#164760], RANGRF [OMIM#607954], RASA2 [OMIM #601589], RASA3 [OMIM#605182], RBM10 [OMIM#300080], RBM20 [OMIM#613171], RBPJ [OMIM #147183], RIT1 [OMIM#609591], RRAS [OMIM#165090], RYR2 [OMIM #180902], SALL1 [OMIM#602218], SALL4 [OMIM#607343], SCN10A [OMIM#604427], SCN1B [OMIM #600235], SCN2B [OMIM#601327], SCN3B [OMIM#608214], SCN4B [OMIM#608256], SCN5A [OMIM #600163], SEMA3E [OMIM#608166], SGCD [OMIM#601411], SHOC2 [OMIM#602775], SLMAP [OMIM #602701], SMAD6 [OMIM#602931], SNTA1 [OMIM#601017], SOS1 [OMIM #182530], SOS2 [OMIM#601247], SPRED1 [OMIM#609291], SPRY1 [OMIM #602465], TAB2 [OMIM#605101], TAZ [OMIM#300394], TBX1 [OMIM #602054], TBX20 [OMIM#606061], TBX3 [OMIM#601621], TBX5 [OMIM #601620], TCAP [OMIM#604488], TECRL [OMIM#617242], TFAP2B [OMIM#601601], TGFB3 [OMIM #190230], TGFBR1 [OMIM#190181], TGFBR2 [OMIM#190182], TLL1 [OMIM#606742], TMEM43 [OMIM #612048], TNNC1 [OMIM#191040], TNNI3 [OMIM#191044], TNNT2 [OMIM#191045], TPM1 [OMIM #191010], TRDN [OMIM#603283], TRPM4 [OMIM#606936], TTN [OMIM #188840], VCL [OMIM#193065], ZEB2 [OMIM#605802], ZFPM2 [OMIM #603693], ZIC3 [OMIM#300265]) Entfristet am: Seite 102 von 213

105 Heterotaxie (ACVR2B [OMIM #602730], CFAP53 [OMIM #614759], CRELD1 [OMIM #607170], DNAH11 [OMIM #603339], DNAH5 [OMIM #603335], DNAI1 [OMIM #604366], GDF1 [OMIM #602880], LEFTY2 [OMIM #601877], MMP21 [OMIM #608416], NODAL [OMIM #601265], NPHP4 [OMIM #607215], PKD1L1 [OMIM #609721], ZIC3 [OMIM #300265]) Heterotaxie (ACVR2B [OMIM #602730], CFAP53 [OMIM #614759], CRELD1 [OMIM #607170], DNAI1 [OMIM #604366], GDF1 [OMIM #602880], LEFTY2 [OMIM #601877], MMP21 [OMIM #608416], NODAL [OMIM #601265], PKD1L1 [OMIM #609721], ZIC3 [OMIM #300265]) Heterotaxie (DNAH11 [OMIM #603339], DNAH5 [OMIM #603335], NPHP4 [OMIM #607215]) Hyperekplexie (GLRA1 [OMIM #138491], GLRB [OMIM #138492], SLC6A5 [OMIM #604159]) Hyperoxalurie (AGXT [OMIM #604285], GRHPR [OMIM #604296], HOGA1 [OMIM #613597]) Entfristet am: Seite 103 von 213

106 Hypertrophe Kardiomyopathie (HCM) (ACTC1[OMIM#102540], ACTN2 [OMIM#102573], ANKRD1 [OMIM #609599], CALR3 [OMIM#611414], CASQ2 [OMIM#114251], CAV3 [OMIM#601253], CRYAB [OMIM #123590], CSRP3 [OMIM#600824], DES [OMIM#125660], JPH2 [OMIM #605267], LDB3 [OMIM#605906], MYBPC3 [OMIM#600958], MYH6 [OMIM#160710], MYH7 [OMIM #160760], MYL2 [OMIM#160781], MYL3 [OMIM#160790], MYLK2 [OMIM#606566], MYOZ2 [OMIM #605602], MYPN [OMIM#608517], NEXN [OMIM#613121], PLN [OMIM #172405], PRKAG2 [OMIM#602743], TCAP [OMIM#604488], TNNC1 [OMIM#191040], TNNI3 [OMIM #191044], TNNT2 [OMIM#191045], TPM1 [OMIM#191010], VCL [OMIM #193065]) Hypertrophe Kardiomyopathie (HCM) (ACTC1[OMIM#102540], ACTN2 [OMIM#102573], ANKRD1 [OMIM #609599], CSRP3 [OMIM#600824], JPH2 [OMIM#605267], MYBPC3 [OMIM#600958], MYH7 [OMIM #160760], MYL2 [OMIM#160781], MYL3 [OMIM#160790], PLN [OMIM #172405], PRKAG2 [OMIM#602743], TCAP [OMIM#604488], TNNC1 [OMIM#191040], TNNI3 [OMIM #191044], TNNT2 [OMIM#191045], TPM1 [OMIM#191010]) Entfristet am: Seite 104 von 213

107 Hypertrophe Kardiomyopathie (HCM) (ACTC1 [OMIM #102540], ACTN2 [OMIM #102573], ANKRD1 [OMIM #609599], CSRP3 [OMIM #600824], JPH2 [OMIM #605267], MYBPC3 [OMIM #600958], MYH7 [OMIM #160760], MYL2 [OMIM #160781], MYL3 [OMIM #160790], PLN [OMIM #172405], PRKAG2 [OMIM #602743], TCAP [OMIM #604488], TNNC1 [OMIM #191040], TNNI3 [OMIM #191044], TNNT2 [OMIM #191045], TPM1 [OMIM #191010]) Hypertrophe Kardiomyopathie (HCM) (CALR3 [OMIM #611414], CASQ2 [OMIM #114251], CAV3 [OMIM #601253], CRYAB [OMIM #123590], DES [OMIM #125660], LDB3 [OMIM #605906], MYH6 [OMIM #160710], MYLK2 [OMIM #606566], MYOZ2 [OMIM #605602], MYPN [OMIM #608517], NEXN [OMIM #613121], VCL [OMIM #193065]) Hypoalphalipoproteinämie (ABCA1 [OMIM #600046], APOA1 [OMIM #107680], LCAT [OMIM #606967]) Hypobetalipoproteinämie (ANGPTL3 [OMIM #604774], APOB [OMIM #107730], MTTP [OMIM #157147], PCSK9 [OMIM #607786]) Hypokaliämische Periodische Paralyse (CACNA1S [OMIM #114208], KCNJ18 [OMIM #613236], KCNJ2 [OMIM #600681], SCN4A [OMIM #603967]) Hypolipoproteinämie (ABCA1[OMIM #600046], ANGPTL3 [OMIM#604774], APOA1 [OMIM#107680], APOB [OMIM#107730], LCAT [OMIM #606967], MTTP [OMIM#157147], PCSK9 [OMIM#607786]), Gendosisbestimmung Entfristet am: Seite 105 von 213

108 Immundefekte im Kindesalter, primäre (ADA[OMIM#608958], AK2 [OMIM#103020], AP3B1 [OMIM #603401], BLNK [OMIM#604515], BTK [OMIM#300300], CD247 [OMIM #186780], CD3D [OMIM#186790], CD3E [OMIM#186830], CD3G [OMIM #186740], CD40 [OMIM#109535], CD40LG [OMIM#300386], CD79A [OMIM#112205], CD79B [OMIM #147245], CD8A [OMIM#186910], CIITA [OMIM#600005], CLPB [OMIM #616254], CORO1A [OMIM#605000], CSF3R [OMIM#138971], CXCR4 [OMIM#162643], DCLRE1C [OMIM #605988], DOCK8 [OMIM#611432], ELANE [OMIM#130130], FOXN1 [OMIM#600838], G6PC3 [OMIM #611045], GATA1 [OMIM#305371], GATA2 [OMIM#137295], GFI1 [OMIM #600871], HAX1 [OMIM#605998], IGHM [OMIM#147020], IGLL1 [OMIM #146770], IKZF1 [OMIM#603023], IL2RG [OMIM#308380], IL7R [OMIM #146661], ITK [OMIM#186973], xgn1 [OMIM#616012], xk3 [OMIM #600173], LAMTOR2 [OMIM#610389], LCK [OMIM#153390], LIG4 [OMIM #601837], LRRC8A [OMIM#608360], LYST [OMIM#606897], MAGT1 [OMIM#300715], NHEJ1 [OMIM #611290], ORAI1 [OMIM#610277], PIK3R1 [OMIM#171833], PNP [OMIM #164050], PRKDC [OMIM#600899], PTPRC [OMIM#151460], RAB27A [OMIM#603868], RAG1 [OMIM #179615], RAG2 [OMIM#179616], RFX5 [OMIM#601863], RFXANK [OMIM#603200], RFXAP [OMIM #601861], RHOH [OMIM#602037], Fortsetzung der Zeile auf der nächsten Seite Entfristet am: Seite 106 von 213

109 Fortsetzung der Zeile von der vorherigen Seite RMRP [OMIM#157660], SBDS [OMIM #607444], SLC37A4 [OMIM#602671], STAT5B [OMIM#604260], STIM1 [OMIM#605921], STK4 [OMIM #604965], TAP1 [OMIM#170260], TAP2 [OMIM#170261], TAPBP [OMIM #601962], TAZ [OMIM#300394], TRAC [OMIM#186880], UNC119 [OMIM#604011], USB1 [OMIM #613276], VPS13B [OMIM#607817], VPS45 [OMIM#610035], WAS [OMIM #300392], ZAP70 [OMIM#176947]) Interstitielle Lungenerkrankungen im Kindesalter (ILD)/ diffuse parenchymatöse Lungenerkrankungen (DPLD)(ABCA3 [OMIM#601615], CSF2RA [OMIM #306250], CSF2RB [OMIM#138981], FLNA [OMIM#300017], FOXF1 [OMIM #601089], NKX2-1 [OMIM#600635], SFTPB [OMIM#178640], SFTPC [OMIM#178620]) Isolierte Herzfehler (ACTC1[OMIM #102540], BMPR2 [OMIM#600799], CITED2 [OMIM#602937], DTNA [OMIM#601239], ELN [OMIM #130160], FOXH1 [OMIM#603621], FOXP1 [OMIM#605515], GATA4 [OMIM#600576], GATA5 [OMIM #611496], GATA6 [OMIM#601656], Gx1 [OMIM#121014], MED13L [OMIM#608771], MYH6 [OMIM #160710], NKX2-5 [OMIM#600584], NKX2-6 [OMIM#611770], NR2F2 [OMIM#107773], SMAD6 [OMIM #602931], TAB2 [OMIM#605101], TBX1 [OMIM#602054], TBX20 [OMIM #606061], TLL1 [OMIM#606742], ZFPM2 [OMIM#603693]) Entfristet am: Seite 107 von 213

110 Isolierte Herzfehler (ACTC1 [OMIM #102540], CITED2 [OMIM #602937], ELN [OMIM #130160], FOXH1 [OMIM #603621], GATA4 [OMIM #600576], GATA5 [OMIM #611496], GATA6 [OMIM #601656], MYH6 [OMIM #160710], NKX2-5 [OMIM #600584], TBX1 [OMIM #602054], TBX20 [OMIM #606061]) Isolierte Herzfehler (BMPR2 [OMIM #600799], DTNA [OMIM #601239], FOXP1 [OMIM #605515], Gx1 [OMIM #121014], MED13L [OMIM #608771], NKX2-6 [OMIM #611770], NR2F2 [OMIM #107773], SMAD6 [OMIM #602931], TAB2 [OMIM #605101], TLL1 [OMIM #606742], ZFPM2 [OMIM #603693]) Jeune-/ Kurzrippen-Polydaktylie- Syndrom (CEP120 [OMIM #613446], CSPP1 [OMIM #611654], DYNC2H1 [OMIM #603297], DYNC2LI1 [OMIM #617083], EVC [OMIM #604831], EVC2 [OMIM #607261], IFT122 [OMIM #606045], IFT140 [OMIM #614620], IFT172 [OMIM #607386], IFT43 [OMIM #614068], IFT52 [OMIM #617094], IFT80 [OMIM #611177], KIAA0586 [OMIM #610178], NEK1 [OMIM #604588], TCTN3 [OMIM #613847], TTC21B [OMIM #612014], WDR19 [OMIM #608151], WDR34 [OMIM #613363], WDR35 [OMIM #613602], WDR60 [OMIM #615462]) Jeune-/ Kurzrippen-Polydaktylie- Syndrom (DYNC2H1[OMIM#603297], IFT80 [OMIM#611177], NEK1 [OMIM #604588], TTC21B [OMIM#612014], WDR34 [OMIM#613363]) Entfristet am: Seite 108 von 213

111 Jeune-/ Kurzrippen-Polydaktylie- Syndrom (CEP120 [OMIM #613446], CSPP1 [OMIM #611654], DYNC2LI1 [OMIM #617083], EVC [OMIM #604831], EVC2 [OMIM #607261], IFT122 [OMIM #606045], IFT140 [OMIM #614620], IFT172 [OMIM #607386], IFT43 [OMIM #614068], IFT52 [OMIM #617094], KIAA0586 [OMIM #610178], TCTN3 [OMIM #613847], WDR19 [OMIM #608151], WDR35 [OMIM #613602], WDR60 [OMIM #615462]) Joubert Syndrom (Ziliopathie)(AHI1 [OMIM#608894], ARL13B [OMIM #608922], ATXN10 [OMIM#611150], B9D1 [OMIM#614144], C5orf42 [OMIM#614571], CC2D2A [OMIM #612013], CEP104 [OMIM#616690], CEP290 [OMIM#610142], CEP41 [OMIM#610523], CSPP1 [OMIM #611654], EXOC8 [OMIM#615283], HYLS1 [OMIM#610693], INPP5E [OMIM#613037], KIAA0556 [OMIM #616650], KIAA0586 [OMIM #610178], KIF7 [OMIM#611254], MKS1 [OMIM#609883], NPHP1 [OMIM#607100], OFD1 [OMIM #300170], PDE6D [OMIM#602676], POC1B [OMIM#614784], RPGRIP1L [OMIM#610937], TCTN1 [OMIM #609863], TCTN2 [OMIM#613846], TCTN3 [OMIM#613847], TMEM138 [OMIM#614459], TMEM216 [OMIM #613277], TMEM231 [OMIM #614949], TMEM237 [OMIM #614423], TMEM67 [OMIM#609884], TTC21B [OMIM#612014], ZNF423 [OMIM#604557]) Joubert Syndrom (Ziliopathie)(AHI1 [OMIM#608894], CC2D2A [OMIM #612013], CEP290 [OMIM#610142], NPHP1 [OMIM#607100], RPGRIP1L [OMIM#610937], TMEM216 [OMIM #613277], TMEM67 [OMIM#609884]) Entfristet am: Seite 109 von 213

112 Joubert Syndrom (Ziliopathie) (ARL13B[OMIM#608922], ATXN10 [OMIM#611150], B9D1 [OMIM #614144], C5orf42 [OMIM#614571], CEP104 [OMIM#616690], CEP41 [OMIM#610523], CSPP1 [OMIM #611654], HYLS1 [OMIM#610693], INPP5E [OMIM#613037], KIAA0556 [OMIM#616650], KIAA0586 [OMIM #610178], KIF7 [OMIM#611254], MKS1 [OMIM#609883], OFD1 [OMIM #300170], PDE6D [OMIM#602676], POC1B [OMIM#614784], TCTN1 [OMIM#609863], TCTN2 [OMIM #613846], TCTN3 [OMIM#613847], TMEM138 [OMIM#614459], TMEM231 [OMIM#614949], TMEM237 [OMIM#614423], TTC21B [OMIM#612014], ZNF423 [OMIM #604557]) Juvenile myoklonische Epilepsien (CACNB4[OMIM#601949], CASR [OMIM#601199], CLCN2 [OMIM #600570], EFHC1 [OMIM#608815], GABRA1 [OMIM#137160], GABRD [OMIM#137163], KCNMA1 [OMIM #600150], SLC6A1 [OMIM#137165], TBC1D24 [OMIM#613577]) Kabuki-Syndrom (KDM6A[OMIM #300128], KMT2D [OMIM#602113]) Entfristet am: Seite 110 von 213

113 Kallmann-Syndrom (ANOS1[OMIM #300836], CHD7 [OMIM#608892], DUSP6 [OMIM#602748], FEZF1 [OMIM#613301], FGF17 [OMIM #603725], FGF8 [OMIM#600483], FGFR1 [OMIM#136350], FLRT3 [OMIM#604808], FSHB [OMIM #136530], GNRH1 [OMIM#152760], GNRHR [OMIM#138850], HS6ST1 [OMIM#604846], IL17RD [OMIM #606807], KISS1 [OMIM#603286], KISS1R [OMIM#604161], LHB [OMIM #152780], NSMF [OMIM#608137], PROK2 [OMIM#607002], PROKR2 [OMIM#607123], SEMA3A [OMIM #603961], SOX10 [OMIM#602229], SPRY4 [OMIM#607984], TAC3 [OMIM #162330], TACR3 [OMIM#162332], WDR11 [OMIM#606417]) Kallmann-Syndrom Stufe I (ANOS1 [OMIM#300836], CHD7 [OMIM #608892], FGF8 [OMIM#600483], FGFR1 [OMIM#136350], PROK2 [OMIM#607002], PROKR2 [OMIM #607123]) Kallmann-Syndrom Stufe II (FSHB [OMIM#136530], GNRH1 [OMIM #152760], GNRHR [OMIM#138850], KISS1 [OMIM#603286], KISS1R [OMIM#604161], LHB [OMIM #152780], SEMA3A [OMIM#603961], SOX10 [OMIM#602229], TAC3 [OMIM #162330], TACR3 [OMIM#162332]) Kallmann-Syndrom (DUSP6 [OMIM #602748], FEZF1 [OMIM #613301], FGF17 [OMIM #603725], FLRT3 [OMIM #604808], HS6ST1 [OMIM #604846], IL17RD [OMIM #606807], NSMF [OMIM #608137], SPRY4 [OMIM #607984], WDR11 [OMIM #606417]) Kollagen 4-assoziierte intrazerebrale Blutungen (COL4A1 [OMIM #120130], COL4A2 [OMIM #120090]) Entfristet am: Seite 111 von 213

114 Kombinierte T- und B- Zellimmundefekte (ADA[OMIM #608958], AK2 [OMIM#103020], CD247 [OMIM#186780], CD3D [OMIM#186790], CD3E [OMIM #186830], CD3G [OMIM#186740], CD40 [OMIM#109535], CD40LG [OMIM#300386], CD8A [OMIM #186910], CIITA [OMIM#600005], CORO1A [OMIM#605000], DCLRE1C [OMIM#605988], DOCK8 [OMIM #611432], FOXN1 [OMIM#600838], IKZF1 [OMIM#603023], IL2RG [OMIM #308380], IL7R [OMIM#146661], ITK [OMIM#186973], xk3 [OMIM #600173], LCK [OMIM#153390], LIG4 [OMIM#601837], MAGT1 [OMIM #300715], NHEJ1 [OMIM#611290], ORAI1 [OMIM#610277], PNP [OMIM #164050], PRKDC [OMIM#600899], PTPRC [OMIM#151460], RAG1 [OMIM#179615], RAG2 [OMIM #179616], RFX5 [OMIM#601863], RFXANK [OMIM#603200], RFXAP [OMIM#601861], RHOH [OMIM #602037], RMRP [OMIM#157660], STAT5B [OMIM#604260], STIM1 [OMIM#605921], STK4 [OMIM #604965], TAP1 [OMIM#170260], TAP2 [OMIM #170261], TAPBP [OMIM#601962], TRAC [OMIM#186880], UNC119 [OMIM#604011], ZAP70 [OMIM #176947]) Entfristet am: Seite 112 von 213

115 Kombinierte T- und B- Zellimmundefekte (ADA [OMIM #608958], CD247 [OMIM #186780], CD3D [OMIM #186790], CD3E [OMIM #186830], CD3G [OMIM #186740], CD40 [OMIM #109535], CD40LG [OMIM #300386], CD8A [OMIM #186910], CORO1A [OMIM #605000], DCLRE1C [OMIM #605988], IL2RG [OMIM #308380], IL7R [OMIM #146661], xk3 [OMIM #600173], LIG4 [OMIM #601837], PNP [OMIM #164050], RAG1 [OMIM #179615], RAG2 [OMIM #179616], ZAP70 [OMIM #176947]) Kombinierte T- und B- Zellimmundefekte (AK2[OMIM #103020], CIITA [OMIM#600005], DOCK8 [OMIM#611432], FOXN1 [OMIM#600838], IKZF1 [OMIM #603023], ITK [OMIM#186973], LCK [OMIM#153390], MAGT1 [OMIM #300715], NHEJ1 [OMIM#611290], ORAI1 [OMIM#610277], PRKDC [OMIM#600899], PTPRC [OMIM #151460], RFX5 [OMIM#601863], RFXANK [OMIM#603200], RFXAP [OMIM#601861], RHOH [OMIM #602037], RMRP [OMIM#157660], STAT5B [OMIM#604260], STIM1 [OMIM#605921], STK4 [OMIM #604965], TAP1 [OMIM#170260], TAP2 [OMIM#170261], TAPBP [OMIM #601962], TRAC [OMIM#186880], UNC119 [OMIM#604011]) Entfristet am: Seite 113 von 213

116 Kongenitale Muskeldystrophien (CHKB[OMIM#612395], COL6A1 [OMIM#120220], COL6A2 [OMIM #120240], COL6A3 [OMIM#120250], DNM2 [OMIM#602378], FHL1 [OMIM #300163], FKRP [OMIM#606596], FKTN [OMIM#607440], ISPD [OMIM #614631], ITGA7 [OMIM#600536], LAMA2 [OMIM#156225], LARGE [OMIM#603590], POMGNT1 [OMIM #606822], POMGNT2 [OMIM #614828], POMT1 [OMIM#607423], POMT2 [OMIM#607439], SEPN1 [OMIM#606210], TCAP [OMIM #604488]) Kongenitale Myopathien (ACTA1 [OMIM#102610], BIN1 [OMIM #601248], CCDC78 [OMIM#614666], CFL2 [OMIM#601443], CNTN1 [OMIM #600016], DNM2 [OMIM#602378], KBTBD13 [OMIM#613727], KLHL40 [OMIM#615340], KLHL41 [OMIM #607701], LMOD3 [OMIM#616112], MEGF10 [OMIM#612453], MTM1 [OMIM#300415], MTMR14 [OMIM #611089], MYF6 [OMIM#159991], MYH2 [OMIM#160740], MYH7 [OMIM#160760], NEB [OMIM #161650], RYR1 [OMIM#180901], SEPN1 [OMIM#606210], SPEG [OMIM #615950], TNNT1 [OMIM#191041], TPM2 [OMIM#190990], TPM3 [OMIM #191030], TTN [OMIM#188840], VCP [OMIM#601023]) Kongenitale Myopathien (ACTA1 [OMIM #102610], MYH7 [OMIM #160760], RYR1 [OMIM #180901], TPM3 [OMIM #191030]) Entfristet am: Seite 114 von 213

117 Kongenitale Myopathien (erweiterte Panel-Analyse) (BIN1[OMIM #601248], CCDC78 [OMIM#614666], CFL2 [OMIM#601443], CNTN1 [OMIM #600016], DNM2 [OMIM#602378], KBTBD13 [OMIM#613727], KLHL40 [OMIM#615340], KLHL41 [OMIM #607701], LMOD3 [OMIM#616112], MTM1 [OMIM#300415], MTMR14 [OMIM#611089], MYF6 [OMIM #159991], NEB [OMIM#161650], SEPN1 [OMIM#606210], SPEG [OMIM #615950], TNNT1 [OMIM#191041], TPM2 [OMIM#190990], TTN [OMIM #188840]) Kraniosynostosen (ALX4[OMIM #605420], BMP4 [OMIM#112262], CCBE1 [OMIM#612753], CEP120 [OMIM#613446], EFNB1 [OMIM #300035], ERF [OMIM#611888], ESCO2 [OMIM#609353], FGFR1 [OMIM#136350], FGFR2 [OMIM #176943], FGFR3 [OMIM#134934], FREM1 [OMIM#608944], GLI3 [OMIM #165240], IFT122 [OMIM#606045], IFT140 [OMIM#614620], IFT43 [OMIM#614068], IL11RA [OMIM #600939], IMPAD1 [OMIM#614010], IRX5 [OMIM#606195], KRAS [OMIM #190070], MEGF8 [OMIM#604267], MSX2 [OMIM#123101], MYH3 [OMIM#160720], P4HB [OMIM #176790], POR [OMIM#124015], RAB23 [OMIM#606144], RECQL4 [OMIM#603780], SCARF2 [OMIM #613619], SEC24D [OMIM#607186], SKI [OMIM#164780], SPECC1L [OMIM #614140], STAT3 [OMIM#102582], TCF12 [OMIM#600480], TGFBR1 [OMIM#190181], TGFBR2 [OMIM #190182], TWIST1 [OMIM#601622], WDR19 [OMIM#608151], WDR35 [OMIM#613602]) Entfristet am: Seite 115 von 213

118 Kraniosynostosen (FGFR1[OMIM #136350], FGFR2 [OMIM#176943], FGFR3 [OMIM#134934], TCF12 [OMIM#600480], TWIST1 [OMIM #601622]) Kraniosynostosen (ALX4[OMIM #605420], BMP4 [OMIM#112262], CCBE1 [OMIM#612753], CEP120 [OMIM#613446], EFNB1 [OMIM #300035], ERF [OMIM#611888], ESCO2 [OMIM#609353], FREM1 [OMIM#608944], GLI3 [OMIM #165240], IFT122 [OMIM#606045], IFT140 [OMIM#614620], IFT43 [OMIM#614068], IL11RA [OMIM #600939], IMPAD1 [OMIM#614010], IRX5 [OMIM#606195], KRAS [OMIM #190070], MEGF8 [OMIM#604267], MSX2 [OMIM#123101], MYH3 [OMIM#160720], P4HB [OMIM #176790], POR [OMIM#124015], RAB23 [OMIM#606144], RECQL4 [OMIM#603780], SCARF2 [OMIM #613619], SEC24D [OMIM#607186], SKI [OMIM#164780], SPECC1L [OMIM #614140], STAT3 [OMIM#102582], TCF12 [OMIM#600480], TGFBR1 [OMIM#190181], TGFBR2 [OMIM #190182], WDR19 [OMIM#608151], WDR35 [OMIM#613602]) LEOPARD-Syndrom (BRAF [OMIM #164757], MAP2K1 [OMIM #176872], PTPN11 [OMIM #176876], RAF1 [OMIM #164760]) LEOPARD-Syndrom (BRAF [OMIM #164757], MAP2K1 [OMIM #176872], PTPN11 [OMIM #176876], RAF1 [OMIM #164760]) Leukoencephalopathie mit Verlust der weißen Substanz (EIF2B1 [OMIM #606686], EIF2B2 [OMIM #606454], EIF2B3 [OMIM #606273], EIF2B4 [OMIM #606687], EIF2B5 [OMIM #603945]), Gendosisbestimmung Entfristet am: Seite 116 von 213

119 Loeys-Dietz-Syndrom (SMAD3[OMIM #603109], TGFB2 [OMIM#190220], TGFB3 [OMIM#190230], TGFBR1 [OMIM#190181], TGFBR2 [OMIM #190182]) Loeys-Dietz-Syndrom (SMAD3[OMIM #603109], TGFB2 [OMIM#190220], TGFB3 [OMIM#190230], TGFBR1 [OMIM#190181], TGFBR2 [OMIM #190182]) Long QT-Syndrom (LQTS)(AKAP9 [OMIM#604001], ANK2 [OMIM #106410], CACNA1C [OMIM #114205], CALM1 [OMIM#114180], CALM2 [OMIM#114182], CAV3 [OMIM#601253], KCNE1 [OMIM #176261], KCNE2 [OMIM#603796], KCNE3 [OMIM#604433], KCNH2 [OMIM#152427], KCNJ2 [OMIM #600681], KCNJ5 [OMIM#600734], KCNQ1 [OMIM#607542], SCN4B [OMIM#608256], SCN5A [OMIM #600163], SNTA1 [OMIM#601017], TECRL [OMIM#617242]) Long QT-Syndrom (LQTS)(CACNA1C [OMIM#114205], CALM1 [OMIM #114180], CAV3 [OMIM#601253], KCNE1 [OMIM#176261], KCNE2 [OMIM#603796], KCNE3 [OMIM #604433], KCNH2 [OMIM#152427], KCNJ2 [OMIM#600681], KCNJ5 [OMIM#600734], KCNQ1 [OMIM #607542], SCN4B [OMIM#608256], SCN5A [OMIM#600163], SNTA1 [OMIM#601017]), Gendosisbestimmung Entfristet am: Seite 117 von 213

120 Long QT-Syndrom (LQTS) (AKAP9 [OMIM #604001], ANK2 [OMIM #106410], CACNA1C [OMIM #114205], CALM1 [OMIM #114180], CALM2 [OMIM #114182], CAV3 [OMIM #601253], KCNE1 [OMIM #176261], KCNE2 [OMIM #603796], KCNE3 [OMIM #604433], KCNH2 [OMIM #152427], KCNJ2 [OMIM #600681], KCNJ5 [OMIM #600734], KCNQ1 [OMIM #607542], SCN4B [OMIM #608256], SCN5A [OMIM #600163], SNTA1 [OMIM #601017], TECRL [OMIM #617242]) Long QT-Syndrom (LQTS) (CACNA1C [OMIM #114205], CALM1 [OMIM #114180], CAV3 [OMIM #601253], KCNE1 [OMIM #176261], KCNE2 [OMIM #603796], KCNE3 [OMIM #604433], KCNH2 [OMIM #152427], KCNJ2 [OMIM #600681], KCNJ5 [OMIM #600734], KCNQ1 [OMIM #607542], SCN4B [OMIM #608256], SCN5A [OMIM #600163], SNTA1 [OMIM #601017]), Gendosisbestimmung Entfristet am: Seite 118 von 213

121 Makrozephalien (AKT3[OMIM #611223], AMER1 [OMIM#300647], ASPA [OMIM#608034], BRAF [OMIM #164757], BRWD3 [OMIM#300553], CBL [OMIM#165360], CCDC22 [OMIM #300859], CCND2 [OMIM#123833], CDKN1C [OMIM#600856], CHD8 [OMIM#610528], CUL4B [OMIM #300304], DIS3L2 [OMIM#614184], DNMT3A [OMIM#602769], DVL1 [OMIM#601365], DVL3 [OMIM #601368], EZH2 [OMIM#601573], FOXP1 [OMIM#605515], GCDH [OMIM#608801], GFAP [OMIM #137780], GLI3 [OMIM#165240], GNAQ [OMIM#600998], GPC3 [OMIM #300037], GRIA3 [OMIM#305915], HEPACAM [OMIM#611642], HERC1 [OMIM#605109], HRAS [OMIM #190020], HUWE1 [OMIM#300697], KIAA0196 [OMIM#610657], KIF7 [OMIM#611254], KPTN [OMIM #615620], KRAS [OMIM#190070], LZTR1 [OMIM#600574], MAP2K1 [OMIM#176872], MAP2K2 [OMIM #601263], MED12 [OMIM#300188], MLC1 [OMIM#605908], MTOR [OMIM#601231], NDUFA1 [OMIM #300078], NFIX [OMIM#164005], NONO [OMIM#300084], NRAS [OMIM #164790], NSD1 [OMIM #606681], OFD1 [OMIM #300170], PIGA [OMIM #311770], PIGN [OMIM #606097], PIGT [OMIM #610272], PIGV [OMIM #610274], PIK3R2 [OMIM #603157], PPP1CB [OMIM #600590], PPP2R5D [OMIM #601646], PTCH1 [OMIM #601309], PTCH2 [OMIM #603673], PTEN [OMIM #601728], PTPN11 [OMIM #176876], RAB39B [OMIM #300774], RAF1 [OMIM #164760], RASA2 [OMIM #601589], Fortsetzung der Zeile auf der nächsten Seite Entfristet am: Seite 119 von 213

122 Fortsetzung der Zeile von der vorherigen Seite RASA3 [OMIM#605182], RIT1 [OMIM #609591], RNF135 [OMIM#611358], ROR2 [OMIM#602337], RRAS [OMIM #165090], SETD2 [OMIM#612778], SHANK3 [OMIM#606230], SHOC2 [OMIM#602775], SOS1 [OMIM #182530], SOS2 [OMIM#601247], SUFU [OMIM#607035], TBC1D7 [OMIM#612655], TMCO1 [OMIM #614123], UPF3B [OMIM#300298], WNT5A [OMIM#164975], ZDHHC9 [OMIM#300646]) Makrozephalien (EZH2 [OMIM #601573], GCDH [OMIM #608801], NFIX [OMIM #164005], NSD1 [OMIM #606681], PTCH1 [OMIM #601309], PTEN [OMIM #601728], SHANK3 [OMIM #606230]) Makrozephalien (AKT3[OMIM #611223], AMER1 [OMIM#300647], ASPA [OMIM#608034], BRAF [OMIM #164757], BRWD3 [OMIM#300553], CBL [OMIM#165360], CCDC22 [OMIM #300859], CCND2 [OMIM#123833], CDKN1C [OMIM#600856], CHD8 [OMIM#610528], CUL4B [OMIM #300304], DIS3L2 [OMIM#614184], DNMT3A [OMIM#602769], DVL1 [OMIM#601365], DVL3 [OMIM #601368], FOXP1 [OMIM#605515], GFAP [OMIM#137780], GLI3 [OMIM #165240], GNAQ [OMIM#600998], GPC3 [OMIM#300037], GRIA3 [OMIM #305915], HEPACAM [OMIM #611642], HRAS [OMIM#190020], HUWE1 [OMIM#300697], KIAA0196 [OMIM#610657], Fortsetzung der Zeile auf der nächsten Seite Entfristet am: Seite 120 von 213

123 Fortsetzung der Zeile von der vorherigen Seite KIF7 [OMIM#611254], KPTN [OMIM #615620], KRAS [OMIM#190070], LZTR1 [OMIM#600574], MAP2K1 [OMIM#176872], MAP2K2 [OMIM #601263], MED12 [OMIM#300188], MLC1 [OMIM#605908], MTOR [OMIM#601231], NDUFA1 [OMIM #300078], NONO [OMIM#300084], NRAS [OMIM#164790], OFD1 [OMIM #300170], PIGA [OMIM#311770], PIGN [OMIM #606097], PIGT [OMIM#610272], PIGV [OMIM#610274], PIK3R2 [OMIM#603157], PPP1CB [OMIM #600590], PPP2R5D [OMIM#601646], PTCH2 [OMIM#603673], PTPN11 [OMIM#176876], RAB39B [OMIM #300774], RAF1 [OMIM#164760], RASA2 [OMIM#601589], RIT1 [OMIM #609591], RNF135 [OMIM#611358], ROR2 [OMIM#602337], RRAS [OMIM #165090], SETD2 [OMIM#612778], SHOC2 [OMIM#602775], SOS1 [OMIM#182530], SOS2 [OMIM #601247], SUFU [OMIM#607035], TBC1D7 [OMIM#612655], TMCO1 [OMIM#614123], UPF3B [OMIM #300298], WNT5A [OMIM#164975], ZDHHC9 [OMIM#300646]) Maligne Hyperthermie (MH) (CACNA1S [OMIM #114208], RYR1 [OMIM #180901]) Marfan-ähnliche Erkrankungen (ADAMTSL4 [OMIM #610113], FBN2 [OMIM #612570], LTBP2 [OMIM #602091], MED12 [OMIM #300188], SKI [OMIM #164780], UPF3B [OMIM #300298], ZDHHC9 [OMIM #300646]) Marfan-Syndrom und Typ 1 Fibrillinopathien (FBN1 [OMIM #134797], TGFBR1 [OMIM #190181], TGFBR2 [OMIM #190182]) Entfristet am: Seite 121 von 213

124 Marfan-Syndrom und Typ 1 Fibrillinopathien (FBN1 [OMIM #134797], TGFBR1 [OMIM #190181], TGFBR2 [OMIM #190182]) Meckel-Gruber-Syndrom (B9D1 [OMIM#614144], B9D2 [OMIM #611951], C5orf42 [OMIM#614571], CC2D2A [OMIM#612013], CEP290 [OMIM#610142], CEP41 [OMIM #610523], CSPP1 [OMIM#611654], KIF14 [OMIM#611279], MKS1 [OMIM #609883], NPHP3 [OMIM#608002], RPGRIP1 [OMIM#605446], RPGRIP1L [OMIM#610937], TCTN2 [OMIM #613846], TCTN3 [OMIM#613847], TMEM138 [OMIM#614459], TMEM216 [OMIM#613277], TMEM231 [OMIM#614949], TMEM237 [OMIM#614423], TMEM67 [OMIM#609884], TTC21B [OMIM #612014], WDPCP [OMIM#613580]) Meckel-Gruber Syndrom (B9D1 [OMIM#614144], B9D2 [OMIM #611951], CC2D2A [OMIM#612013], CEP290 [OMIM#610142], MKS1 [OMIM#609883], RPGRIP1L [OMIM #610937], TCTN2 [OMIM#613846], TMEM138 [OMIM#614459], TMEM216 [OMIM#613277], TMEM67 [OMIM#609884]) Meckel-Gruber-Syndrom (C5orf42 [OMIM #614571], CEP41 [OMIM #610523], CSPP1 [OMIM #611654], KIF14 [OMIM #611279], NPHP3 [OMIM #608002], RPGRIP1 [OMIM #605446], TCTN3 [OMIM #613847], TMEM231 [OMIM #614949], TMEM237 [OMIM #614423], TTC21B [OMIM #612014], WDPCP [OMIM #613580]), Gendosisbestimmung Entfristet am: Seite 122 von 213

125 MEN1 / PGG- CDKN1B (OMIM #600778), MAX (OMIM #154950), MEN1 (OMIM #613733), RET (OMIM #164761), SDHAF2 (OMIM #613019), SDHB (OMIM #185470), SDHC (OMIM #602413), SDHD (OMIM #602413), VHL (OMIM #193300) Mikrozephaler Osteodysplastischer Primordialer Kleinwuchs (MOPD2) (PCNT [OMIM #605925]) Mitochondriales Genom (37 Gene; 16,6 kb) bei V.a. LHON, MELAS, MERFF oder mitochondriale Taubheit (MT-ATP6[OMIM#516060], MT-ATP8 [OMIM#516070], MT-CO2 [OMIM #516040], MT-CO3 [OMIM#516050], MT-COI [OMIM#516030], MT-CYB [OMIM#516020], MT-L2 [OMIM #590055], MT-ND1 [OMIM#516000], MT-ND2 [OMIM#516001], MT-ND3 [OMIM#516002], MT-ND4 [OMIM #516003], MT-ND4L [OMIM#516004], MT-ND5 [OMIM#516005], MT-ND6 [OMIM#516006], MT-RNR1 [OMIM #180450], MT-RNR2 [OMIM #180451], MT-TA [OMIM#590000], MT-TD [OMIM#590015], MT-TE [OMIM#590025], MT-TF [OMIM #590070], MT-TG [OMIM#590035], MT-TH [OMIM#590040], MT-TI [OMIM#590045], MT-TK [OMIM #590060], MT-TL1 [OMIM#590050], MT-TM [OMIM#590065], MT-TN [OMIM#590010], MT-TP [OMIM #590075], MT-TQ [OMIM#590030], MT-TR [OMIM#590005], MT-TS1 [OMIM#590080], MT-TS2 [OMIM #590085], MT-TT [OMIM #590090], MT-TV [OMIM #590105], MT-TV [OMIM #590020], MT-TW [OMIM #590095], MT-TY [OMIM #590100]) Ampliseq, NGS semiconductor sequencing, Ion PGM-System (Thermofisher), JSI medical systems SeqNext Entfristet am: Seite 123 von 213

126 MODY-Diabetes (ABCC8 [OMIM #600509], APPL1 [OMIM #604299], BLK [OMIM #191305], CEL [OMIM #114840], GCK [OMIM #138079], HNF1A [OMIM #142410], HNF1B [OMIM #189907], HNF4A [OMIM #600281], INS [OMIM #176730], KCNJ11 [OMIM #600937], KLF11 [OMIM #603301], NEUROD1 [OMIM #601724], PAX4 [OMIM #167413], PDX1 [OMIM #600733]) MODY-Diabetes (ABCC8 [OMIM #600509], APPL1 [OMIM #604299], BLK [OMIM #191305], GCK [OMIM #138079], HNF1A [OMIM #142410], HNF1B [OMIM #189907], HNF4A [OMIM #600281], INS [OMIM #176730], KCNJ11 [OMIM #600937], KLF11 [OMIM #603301], NEUROD1 [OMIM #601724], PAX4 [OMIM #167413], PDX1 [OMIM #600733]) mtor Gesamt (AKT1 [OMIM #164730], AKT1S1 [OMIM #610221], AKT3 [OMIM #611223], DEPDC5 [OMIM #614191], DEPTOR [OMIM #612974], DOCK7 [OMIM #615730], MLST8 [OMIM #612190], MTOR [OMIM #601231], NPRL2 [OMIM #607072], NPRL3 [OMIM #600928], PAK2 [OMIM #605022], PIK3CA [OMIM #171834], PIK3CD [OMIM #602839], PIK3R2 [OMIM #603157], PTEN [OMIM #601728], RPTOR [OMIM #607130], STRADA [OMIM #608626], TBC1D7 [OMIM #612655], TSC1 [OMIM #605284], TSC2 [OMIM #191092]) Mukopolysaccharidosen (ARSB [OMIM #611542], GALNS [OMIM #612222], GLB1 [OMIM #611458], GUSB [OMIM #611499], HGSNAT [OMIM #610453], HYAL1 [OMIM #607071], IDS [OMIM #300823], IDUA [OMIM #252800], NAGLU [OMIM #609701], SGSH [OMIM #605270]), Gendosisbestimmung Entfristet am: Seite 124 von 213

127 Muskeldystrophien (B3GALNT2 [OMIM #610194], B3GNT1 [OMIM #605517], B4GAT1 [OMIM #605517], CHKB [OMIM #612395], COL6A1 [OMIM #120220], COL6A2 [OMIM #120240], COL6A3 [OMIM #120250], DAG1 [OMIM #128239], FHL1 [OMIM #300163], FKRP [OMIM #606596], FKTN [OMIM #607440], GMPPB [OMIM #615320], ISPD [OMIM #614631], ITGA7 [OMIM #600536], LAMA2 [OMIM #156225], LARGE [OMIM #603590], POMGNT1 [OMIM #606822], POMGNT2 [OMIM #614828], POMK [OMIM #615247], POMT1 [OMIM #607423], POMT2 [OMIM #607439], SEPN1 [OMIM #606210], TMEM5 [OMIM #605862]) Muskeldystrophien (Dystroglycanopathien Typ A+B) (B3GALNT2[OMIM#610194], B4GAT1 [OMIM#605517], DAG1 [OMIM #128239], FKRP [OMIM#606596], FKTN [OMIM#607440], GMPPB [OMIM#615320], ISPD [OMIM #614631], LARGE [OMIM#603590], POMGNT1 [OMIM#606822], POMGNT2 [OMIM#614828], POMK [OMIM#615247], POMT1 [OMIM #607423], POMT2 [OMIM#607439], TMEM5 [OMIM#605862]) Entfristet am: Seite 125 von 213

128 Muskeldystrophien (erweiterte Panel- Analyse) (B3GALNT2 [OMIM #610194], B4GAT1 [OMIM #605517], CHKB [OMIM #612395], COL6A1 [OMIM #120220], COL6A2 [OMIM #120240], COL6A3 [OMIM #120250], DAG1 [OMIM #128239], FHL1 [OMIM #300163], FKRP [OMIM #606596], FKTN [OMIM #607440], GMPPB [OMIM #615320], ISPD [OMIM #614631], ITGA7 [OMIM #600536], LAMA2 [OMIM #156225], LARGE [OMIM #603590], POMGNT1 [OMIM #606822], POMGNT2 [OMIM #614828], POMK [OMIM #615247], POMT1 [OMIM #607423], POMT2 [OMIM #607439], SEPN1 [OMIM #606210], TMEM5 [OMIM #605862]) Muskeldystrophien (Kollagenassoziierte und sonstige) (CHKB [OMIM #612395], COL6A1 [OMIM #120220], COL6A2 [OMIM #120240], COL6A3 [OMIM #120250], FHL1 [OMIM #300163], ITGA7 [OMIM #600536], SEPN1 [OMIM #606210]) Entfristet am: Seite 126 von 213

129 Muskelerkrankungen (ACADVL[OMIM #609575], ACTA1 [OMIM#102610], AGK [OMIM#610345], ALDOA [OMIM #103850], ANO5 [OMIM#608662], ASAH1 [OMIM#613468], ATP7A [OMIM#300011], B3GALNT2 [OMIM #610194], B3GNT1 [OMIM#605517], B4GAT1 [OMIM#605517], BAG3 [OMIM#603883], BICD2 [OMIM #609797], BIN1 [OMIM#601248], BSCL2 [OMIM#606158], C10orf2 [OMIM#606075], CACNA1S [OMIM #114208], CAPN3 [OMIM#114240], CAV3 [OMIM#601253], CCDC78 [OMIM#614666], CFL2 [OMIM #601443], CHCHD10 [OMIM #615903], CHKB [OMIM#612395], CLCN1 [OMIM#118425], CNTN1 [OMIM#600016], COL6A1 [OMIM #120220], COL6A2 [OMIM#120240], COL6A3 [OMIM#120250], CPT2 [OMIM#600650], CRYAB [OMIM #123590], DAG1 [OMIM#128239], DES [OMIM#125660], DGUOK [OMIM #601465], DMD [OMIM#300377], DNAJB2 [OMIM#604139], DNAJB6 [OMIM#611332], DNM2 [OMIM #602378], DYNC1H1 [OMIM #600112], DYSF [OMIM#603009], EMD [OMIM#300384], ETFA [OMIM #608053], ETFB [OMIM#130410], ETFDH [OMIM#231675], EXOSC3 [OMIM#606489], EXOSC8 [OMIM #606019], FBXL4 [OMIM#605654], FBXO38 [OMIM#608533], FHL1 [OMIM#300163], FKRP [OMIM #606596], FKTN [OMIM#607440], FLNC [OMIM#102565], GAA [OMIM #606800], GARS [OMIM#600287], GMPPB [OMIM#615320], Fortsetzung der Zeile auf der nächsten Seite Entfristet am: Seite 127 von 213

130 Fortsetzung der Zeile von der vorherigen Seite GNE [OMIM#603824], HADHA [OMIM #600890], HADHB [OMIM#143450], HNRNPDL [OMIM#607137], HSPB8 [OMIM#608014], HSPG2 [OMIM #142461], IGHMBP2 [OMIM #600502], ISPD [OMIM#614631], ITGA7 [OMIM#600536], KBTBD13 [OMIM#613727], KCNJ18 [OMIM #613236], KCNJ2 [OMIM#600681], KLHL40 [OMIM#615340], KLHL41 [OMIM#607701], KY [OMIM #605739], LAMA2 [OMIM#156225], LARGE [OMIM#603590], LDB3 [OMIM #605906], LDHA [OMIM#150000], LIMS2 [OMIM#607908], LMNA [OMIM#150330], LMOD3 [OMIM #616112], LPIN1 [OMIM#605518], MEGF10 [OMIM#612453], MGME1 [OMIM#615076], MPV17 [OMIM#137960], MTM1 [OMIM#300415], MTMR14 [OMIM #611089], MYF6 [OMIM#159991], MYH2 [OMIM#160740], MYH7 [OMIM#160760], MYOT [OMIM #604103], NEB [OMIM#161650], PFKM [OMIM#610681], PGAM2 [OMIM#612931], PHKA1 [OMIM #311870], PHKB [OMIM#172490], PLEC [OMIM#601282], PLEKHG5 [OMIM#611101], POLG [OMIM #174763], POMGNT1 [OMIM #606822], POMGNT2 [OMIM #614828], POMK [OMIM#615247], POMT1 [OMIM#607423], POMT2 [OMIM#607439], PYGM [OMIM #608455], PYROXD1 [OMIM#617220], REEP1 [OMIM#609139], RRM2B [OMIM#604712], Fortsetzung der Zeile auf der nächsten Seite Entfristet am: Seite 128 von 213

131 Fortsetzung der Zeile von der vorherigen Seite RYR1 [OMIM#180901], SCN4A [OMIM #603967], SEPN1 [OMIM#606210], SGCA [OMIM#600119], SGCB [OMIM #600900], SGCD [OMIM#601411], SGCG [OMIM#608896], SLC25A20 [OMIM#613698], SLC25A4 [OMIM #103220], SLC5A7 [OMIM#608761], SPEG [OMIM#615950], SUCLA2 [OMIM#603921], SUCLG1 [OMIM #611224], SYNE1 [OMIM#608441], SYNE2 [OMIM#608442], TCAP [OMIM#604488], TFG [OMIM #602498], TK2 [OMIM#188250], TMEM43 [OMIM#612048], TMEM5 [OMIM#605862], TNNT1 [OMIM #191041], TNPO3 [OMIM#610032], TPM2 [OMIM#190990], TPM3 [OMIM #191030], TRAPPC11 [OMIM #614138], TRIM32 [OMIM#602290], TRPV4 [OMIM#605427], TTN [OMIM #188840], TYMP [OMIM#131222], UBA1 [OMIM#314370], VAPB [OMIM #605704], VCP [OMIM#601023], VRK1 [OMIM#602168]) Myofibrilläre Myopathien (BAG3 [OMIM #603883], CRYAB [OMIM #123590], DES [OMIM #125660], DNAJB6 [OMIM #611332], FHL1 [OMIM #300163], FLNC [OMIM #102565], LDB3 [OMIM #605906], MYOT [OMIM #604103]) Entfristet am: Seite 129 von 213

132 Myeloische Neoplasien (ASXL1[OMIM, #612990], BCOR [OMIM#300485], Knochenmark, DNA aus FFPE-Gewebe BRAF [OMIM#164757], CALR [OMIM #109091], CBL [OMIM#165360], CDKN2A [OMIM#600160],CEBPa [OMIM#116897], CSF3R [OMIM# ], CUX1 [OMIM#116896], DNMT3A [OMIM#602769], ELANE [OMIM#130130], ETNK1 [OMIM# ], ETV6 [OMIM#600618], EZH2 [OMIM#601573], GATA2 [OMIM#137295], GNAS [OMIM #139320], HRAS [OMIM#190020], IDH1 [OMIM#147700], IDH2 [OMIM #147650], xk2 [OMIM#147796], KIT [OMIM#164920], KRAS [OMIM #190070], MPL [OMIM#159530], NPM1 [OMIM#164040], NRAS [OMIM #164790], PHF6 [OMIM#300414], PRPF8 [OMIM#607300], PTEN [OMIM #601728], PTPN11 [OMIM#176876], RAD21 [OMIM#606462], RUNX1 [OMIM#151385], SETBP1 [OMIM #269150], SF3B1 [OMIM#605590], SRSF2 [OMIM#600813], SRSF2 [OMIM#600813], TET2 [OMIM #612839], TP53 [OMIM#191170], U2AF1 [OMIM#191317], WT1 [OMIM #194070], ZRSR2 [OMIM#300028]) Ampliseq, NGS semiconductor sequencing, Ion PGM-System (Thermofisher), JSI medical systems SeqNext Entfristet am: Seite 130 von 213

133 Nephronophthise (NPHP)(AHI1 [OMIM#608894], ANKS6 [OMIM #615370], ATXN10 [OMIM#611150], CC2D2A [OMIM#612013], CEP164 [OMIM#614848], CEP290 [OMIM #610142], CEP83 [OMIM#615847], DCDC2 [OMIM#605755], GLIS2 [OMIM#608539], IFT172 [OMIM #607386], INVS [OMIM#243305], IQCB1 [OMIM#609237], MAPKBP1 [OMIM#616786], NEK8 [OMIM #609799], NPHP1 [OMIM#607100], NPHP3 [OMIM#608002], NPHP4 [OMIM#607215], PAX2 [OMIM #167409], RPGRIP1L [OMIM #610937], SDCCAG8 [OMIM#613524], SLC41A1 [OMIM#610801], TMEM216 [OMIM#613277], TMEM237 [OMIM #614423], TMEM67 [OMIM#609884], TTC21B [OMIM#612014], WDR19 [OMIM#608151], XPNPEP3 [OMIM #613553], ZNF423 [OMIM#604557]) Nephronophthise (NPHP) (CEP290 [OMIM #610142], GLIS2 [OMIM #608539], INVS [OMIM #243305], IQCB1 [OMIM #609237], NPHP1 [OMIM #607100], NPHP3 [OMIM #608002], NPHP4 [OMIM #607215]) Entfristet am: Seite 131 von 213

134 Nephronophthise (NPHP) (AHI1 [OMIM #608894], ANKS6 [OMIM #615370], ATXN10 [OMIM #611150], CC2D2A [OMIM #612013], CEP164 [OMIM #614848], CEP83 [OMIM #615847], DCDC2 [OMIM #605755], IFT172 [OMIM #607386], MAPKBP1 [OMIM #616786], NEK8 [OMIM #609799], PAX2 [OMIM #167409], RPGRIP1L [OMIM #610937], SDCCAG8 [OMIM #613524], SLC41A1 [OMIM #610801], TMEM216 [OMIM #613277], TMEM237 [OMIM #614423], TMEM67 [OMIM #609884], TTC21B [OMIM #612014], WDR19 [OMIM #608151], XPNPEP3 [OMIM #613553], ZNF423 [OMIM #604557]) Nephrotisches Syndrom (NS)/ Fokal segmentale Glomerulosklerose (FSGS) (ACTN4[OMIM#604638], ADCK4 [OMIM#615567], ALG1 [OMIM #605907], ANLN [OMIM#616027], APOL1 [OMIM#603743], ARHGAP24 [OMIM#610586], ARHGDIA [OMIM #601925], CD2AP [OMIM#604241], CFH [OMIM#134370], COL4A3 [OMIM#120070], COL4A4 [OMIM #120131], COL4A5 [OMIM#303630], COQ2 [OMIM#609825], COQ6 [OMIM #614647], CRB2 [OMIM#609720], CUBN [OMIM#602997], DGKE [OMIM #601440], EMP2 [OMIM#602334], GLA [OMIM#300644], INF2 [OMIM #610982], ITGA3 [OMIM#605025], ITGB4 [OMIM#147557], KANK1 [OMIM#607704], Fortsetzung der Zeile auf der nächsten Seite Entfristet am: Seite 132 von 213

135 KANK2 [OMIM #614610], KANK4 [OMIM #614612], LAMB2 [OMIM #150325], LMX1B [OMIM #602575], MEFV [OMIM #608107], MYH9 [OMIM #160775], MYO1E [OMIM #601479], NEIL1 [OMIM #608844], NPHS1 [OMIM #602716], NPHS2 [OMIM #604766], PAX2 [OMIM #167409], PDSS2 [OMIM #610564], PLCE1 [OMIM #608414], PMM2 [OMIM #601785], PTPRO [OMIM #600579], SCARB2 [OMIM #602257], SMARCAL1 [OMIM #606622], TRAP1 [OMIM #606219], TRPC6 [OMIM #603652], WT1 [OMIM #607102], ZMPSTE24 [OMIM #606480]) Nephrotisches Syndrom (NS) / Fokal segmentale Glomerulosklerose (FSGS) (ACTN4 [OMIM #604638], CD2AP [OMIM #604241], INF2 [OMIM #610982], NPHS1 [OMIM #602716], NPHS2 [OMIM #604766], PLCE1 [OMIM #608414], TRPC6 [OMIM #603652], WT1 [OMIM #607102]) Fortsetzung der Zeile von der vorherigen Seite Entfristet am: Seite 133 von 213

136 Nephrotisches Syndrom (NS)/ Fokal segmentale Glomerulosklerose (FSGS) (ADCK4[OMIM#615567], ANLN [OMIM#616027], APOL1 [OMIM #603743], ARHGAP24 [OMIM #610586], ARHGDIA [OMIM#601925], CFH [OMIM#134370], COL4A3 [OMIM#120070], COL4A4 [OMIM #120131], COL4A5 [OMIM#303630], COQ2 [OMIM#609825], COQ6 [OMIM #614647], CRB2 [OMIM#609720], CUBN [OMIM#602997], DGKE [OMIM #601440], EMP2 [OMIM#602334], GLA [OMIM#300644], ITGA3 [OMIM #605025], ITGB4 [OMIM#147557], KANK1 [OMIM#607704], KANK2 [OMIM#614610], KANK4 [OMIM #614612], LAMB2 [OMIM#150325], LMX1B [OMIM#602575], MYH9 [OMIM#160775], MYO1E [OMIM #601479], NEIL1 [OMIM#608844], PAX2 [OMIM#167409], PDSS2 [OMIM #610564], PTPRO [OMIM#600579], SCARB2 [OMIM#602257], SMARCAL1 [OMIM#606622]) Neurofibromatose Typ 1/Legius- Syndrom (NF1[OMIM#613113], SPRED1 [OMIM#609291]) Neurofibromatose Typ 1/Legius- Syndrom (NF1 [OMIM #613113], SPRED1 [OMIM #609291]), Gendosisbestimmung Entfristet am: Seite 134 von 213

137 Neurogenetische Erkrankungen (AARS [OMIM#601065], ABCB7 [OMIM #300135], ABHD12 [OMIM#613599], ADCK3 [OMIM#606980], ADCY5 [OMIM#600293], ADGRG1 [OMIM #604110], ADGRV1 [OMIM#602851], AFG3L2 [OMIM#604581], AHI1 [OMIM#608894], AIFM1 [OMIM #300169], ALDH7A1 [OMIM#107323], ALG13 [OMIM#300776], ANO10 [OMIM#613726], AP3B2 [OMIM #602166], APP [OMIM#104760], APTX [OMIM#606350], ARHGEF10 [OMIM#608136], ARHGEF15 [OMIM #608504], ARHGEF9 [OMIM#300429], ARL13B [OMIM#608922], ARSA [OMIM#607574], ARV1 [OMIM #611647], ARX [OMIM#300382], ATL1 [OMIM#606439], ATL3 [OMIM #609369], ATM [OMIM#607585], ATN1 [OMIM#607462], ATP1A2 [OMIM#182340], ATP7A [OMIM #300011], ATP8A2 [OMIM#605870], ATXN1 [OMIM#601556], ATXN10 [OMIM#611150], ATXN2 [OMIM #601517], ATXN3 [OMIM#607047], ATXN7 [OMIM#607640], BAG3 [OMIM#603883], BRAT1 [OMIM #614506], BSCL2 [OMIM#606158], C5orf42 [OMIM#614571], CA8 [OMIM#114815], CACNA1A [OMIM #601011], CACNA1G [OMIM #604065], CACNA1H [OMIM #607904], CACNB4 [OMIM#601949], CAD [OMIM#114010], CAPN1 [OMIM #114220], CASR [OMIM#601199], CC2D2A [OMIM#612013], CCDC88C [OMIM#611204], CCT5 [OMIM #610150], CDKL5 [OMIM#300203], CEP290 [OMIM#610142], Fortsetzung der Zeile auf der nächsten Seite Entfristet am: Seite 135 von 213

138 Fortsetzung der Zeile von der vorherigen Seite CEP41 [OMIM#610523], CERS1 [OMIM#606919], CHD2 [OMIM #602119], CHRNA2 [OMIM#118502], CHRNA4 [OMIM#118504], CHRNB2 [OMIM#118507], CLCN2 [OMIM #600570], CLCN4 [OMIM#302910], CLN5 [OMIM#608102], CLN6 [OMIM #606725], COX6A1 [OMIM#602072], CPA6 [OMIM#609562], CSPP1 [OMIM #611654], CSTB [OMIM#601145], CTDP1 [OMIM#604927], DARS2 [OMIM#610956], DCTN1 [OMIM #601143], DCX [OMIM#300121], DENND5A [OMIM#617278], DEPDC5 [OMIM#614191], DNAJC5 [OMIM #611203], DNM1 [OMIM#602377], DNM2 [OMIM#602378], DNMT1 [OMIM#126375], DOCK7 [OMIM#615730], DYNC1H1 [OMIM#600112], DYRK1A [OMIM #600855], EEF1A2 [OMIM#602959], EEF2 [OMIM#130610], EFHC1 [OMIM #608815], EGR2 [OMIM#129010], EIF2B1 [OMIM#606686], EIF2B2 [OMIM#606454], EIF2B3 [OMIM #606273], EIF2B4 [OMIM#606687], EIF2B5 [OMIM#603945], ELOVL4 [OMIM#605512], ELOVL5 [OMIM #611805], ELP4 [OMIM#606985], EPM2A [OMIM#607566], FAM134B [OMIM#613114], FASN [OMIM #600212], FGD4 [OMIM#611104], FGF12 [OMIM#601513], FGF14 [OMIM#601515], FIG4 [OMIM #609390], FLVCR1 [OMIM#609144], FOXG1 [OMIM#164874], FRRS1L [OMIM#604574], FTL [OMIM #134790], GABBR2 [OMIM#607340], Fortsetzung der Zeile auf der nächsten Seite Entfristet am: Seite 136 von 213

139 Fortsetzung der Zeile von der vorherigen Seite GABRA1 [OMIM#137160], GABRB1 [OMIM#137190], GABRB3 [OMIM #137192], GABRD [OMIM#137163], GABRG2 [OMIM#137164], GAL [OMIM#137035], GAN [OMIM #605379], GARS [OMIM#600287], GBA2 [OMIM#609471], GDAP1 [OMIM#606598], GJB1 [OMIM #304040], GLRA1 [OMIM#138491], GLRB [OMIM#138492], GLUL [OMIM #138290], GM2A [OMIM#613109], GNAO1 [OMIM#139311], GOSR2 [OMIM#604027], GPHN [OMIM #603930], GRID2 [OMIM#602368], GRIN2A [OMIM#138253], GRIN2B [OMIM#138252], GRIN2D [OMIM #602717], GRM1 [OMIM#604473], GUF1 [OMIM#617064], HARS [OMIM #142810], HCN1 [OMIM#602780], HDAC4 [OMIM#605314], HK1 [OMIM #142600], HOXD10 [OMIM#142984], HSPB1 [OMIM#602195], HSPB3 [OMIM#604624], HSPB8 [OMIM #608014], IGHMBP2 [OMIM #600502], IKBKAP [OMIM#603722], INPP5E [OMIM#613037], IQSEC2 [OMIM#300522], ITPA [OMIM #147520], ITPR1 [OMIM#147265], KARS [OMIM#601421], KCNA1 [OMIM#176260], KCNA2 [OMIM #176262], KCNB1 [OMIM#600397], KCNC1 [OMIM#176258], KCNC3 [OMIM#176264], KCND3 [OMIM #605411], KCNH5 [OMIM#605716], KCNMA1 [OMIM#600150], KCNQ2 [OMIM#602235], KCNQ3 [OMIM #602232], KCNT1 [OMIM#608167], Fortsetzung der Zeile auf der nächsten Seite Entfristet am: Seite 137 von 213

140 Fortsetzung der Zeile von der vorherigen Seite KCTD7 [OMIM#611725], KIAA0586 [OMIM#610178], KIF1A [OMIM #601255], KIF1B [OMIM#605995], KIF1C [OMIM#603060], KIF7 [OMIM #611254], LGI1 [OMIM#604619], LITAF [OMIM#603795], LMNA [OMIM #150330], LMNB2 [OMIM#150341], LRSAM1 [OMIM#610933], MARS [OMIM#156560], MARS2 [OMIM#609728], MBD5 [OMIM #611472], MECP2 [OMIM#300005], MED25 [OMIM#610197], MEF2C [OMIM#600662], MFN2 [OMIM #608507], MME [OMIM#120520], MORC2 [OMIM#616661], MPZ [OMIM#159440], MRE11A [OMIM #600814], MTMR2 [OMIM#603557], MTPAP [OMIM#613669], NDRG1 [OMIM#605262], NECAP1 [OMIM #611623], NEFH [OMIM#162230], NEFL [OMIM#162280], NGF [OMIM #162030], NHLRC1 [OMIM#608072], NIPA2 [OMIM#608146], NKX2-1 [OMIM#600635], NPC1 [OMIM #607623], NPC2 [OMIM#601015], NPHP1 [OMIM#607100], NPRL2 [OMIM#607072], NPRL3 [OMIM #600928], NTRK1 [OMIM#191315], OFD1 [OMIM#300170], OPA1 [OMIM #605290], OPA3 [OMIM#606580], PCDH19 [OMIM#300460], PDE10A [OMIM#610652], PDE6D [OMIM #602676], PDYN [OMIM#131340], PEX10 [OMIM#602859], Fortsetzung der Zeile auf der nächsten Seite Entfristet am: Seite 138 von 213

141 Fortsetzung der Zeile von der vorherigen Seite PEX2 [OMIM#170993], PIGA [OMIM #311770], PIK3AP1 [OMIM#607942], PIK3R5 [OMIM#611317], PLA2G6 [OMIM#603604], PLCB1 [OMIM #607120], PLEKHG5 [OMIM#611101], PMP22 [OMIM#601097], PNKP [OMIM#605610], PNPLA6 [OMIM #603197], PNPO [OMIM#603287], POC1B [OMIM#614784], POLG [OMIM#174763], PRDM12 [OMIM #616458], PRDM8 [OMIM#616639], PRICKLE1 [OMIM#608500], PRICKLE2 [OMIM#608501], PRKCG [OMIM #176980], PRNP [OMIM#176640], PRPS1 [OMIM#311850], PRRT2 [OMIM#614386], PRX [OMIM #605725], PSEN1 [OMIM#104311], PSEN2 [OMIM#600759], RAB7A [OMIM#602298], RANBP2 [OMIM #601181], RANGAP1 [OMIM #602362], REEP1 [OMIM#609139], RELN [OMIM#600514], RNF216 [OMIM#609948], ROGDI [OMIM #614574], RPGRIP1L [OMIM #610937], RYR3 [OMIM#180903], SACS [OMIM#604490], SBF1 [OMIM #603560], SBF2 [OMIM#607697], SCARB2 [OMIM#602257], SCN11A [OMIM#604385], SCN1A [OMIM#182389], SCN1B [OMIM #600235], SCN2A [OMIM#182390], SCN8A [OMIM#600702], SCN9A [OMIM#603415], SEPT9 [OMIM #604061], SETX [OMIM#608465], SH3TC2 [OMIM#608206], SIK1 [OMIM#605705], SIL1 [OMIM #608005], SLC12A5 [OMIM#606726], SLC12A6 [OMIM#604878], SLC13A5 [OMIM#608305], SLC1A2 [OMIM #600300], SLC1A3 [OMIM#600111], Fortsetzung der Zeile auf der nächsten Seite Entfristet am: Seite 139 von 213

142 Fortsetzung der Zeile von der vorherigen Seite SLC25A12 [OMIM#603667], SLC25A22 [OMIM#609302], SLC2A1 [OMIM#138140], SLC35A2 [OMIM #314375], SLC5A7 [OMIM#608761], SLC6A1 [OMIM#137165], SLC6A5 [OMIM#604159], SNX14 [OMIM #616105], SOX10 [OMIM#602229], SPG11 [OMIM#610844], SPG7 [OMIM #602783], SPTAN1 [OMIM#182810], SPTBN2 [OMIM#604985], SPTLC1 [OMIM#605712], SPTLC2 [OMIM #605713], SRPX2 [OMIM#300642], ST3GAL3 [OMIM#606494], STUB1 [OMIM#607207], STX1B [OMIM #601485], STXBP1 [OMIM#602926], SURF1 [OMIM#185620], SYN1 [OMIM #313440], SYNE1 [OMIM#608441], SYNGAP1 [OMIM#603384], SYT14 [OMIM#610949], SZT2 [OMIM #615463], TBC1D24 [OMIM#613577], TBP [OMIM#600075], TCTN1 [OMIM #609863], TCTN2 [OMIM#613846], TCTN3 [OMIM#613847], TDP1 [OMIM #607198], TFG [OMIM#602498], TGM6 [OMIM#613900], TMEM138 [OMIM#614459], TMEM216 [OMIM #613277], TMEM231 [OMIM #614949], TMEM237 [OMIM #614423], TMEM240 [OMIM #616101], TMEM67 [OMIM#609884], TNK2 [OMIM#606994], TRIM2 [OMIM #614141], TRPC3 [OMIM#602345], TRPV4 [OMIM#605427], TTBK2 [OMIM#611695], TTC21B [OMIM #612014], UBA5 [OMIM#610552], VAMP1 [OMIM#185880], VCP [OMIM #601023], VLDLR [OMIM#192977], VPS13A [OMIM#605978], WNK1 [OMIM#605232], WWOX [OMIM #605131], XK [OMIM#314850], YARS [OMIM#603623], ZNF423 [OMIM #604557]) Entfristet am: Seite 140 von 213

143 Neutropenie, kongenital (AP3B1 [OMIM #603401], CLPB [OMIM #616254], CSF3R [OMIM #138971], CXCR4 [OMIM #162643], ELANE [OMIM #130130], G6PC3 [OMIM #611045], GATA1 [OMIM #305371], GATA2 [OMIM #137295], GFI1 [OMIM #600871], HAX1 [OMIM #605998], xgn1 [OMIM #616012], LAMTOR2 [OMIM #610389], LYST [OMIM #606897], RAB27A [OMIM #603868], SBDS [OMIM #607444], SLC37A4 [OMIM #602671], TAZ [OMIM #300394], USB1 [OMIM #613276], VPS13B [OMIM #607817], VPS45 [OMIM #610035], WAS [OMIM #300392]) Neutropenie, kongenital (AP3B1 [OMIM #603401], CLPB [OMIM #616254], CSF3R [OMIM #138971], CXCR4 [OMIM #162643], ELANE [OMIM #130130], G6PC3 [OMIM #611045], GATA1 [OMIM #305371], GATA2 [OMIM #137295], GFI1 [OMIM #600871], HAX1 [OMIM #605998], xgn1 [OMIM #616012], LAMTOR2 [OMIM #610389], LYST [OMIM #606897], RAB27A [OMIM #603868], SBDS [OMIM #607444], SLC37A4 [OMIM #602671], TAZ [OMIM #300394], USB1 [OMIM #613276], VPS13B [OMIM #607817], VPS45 [OMIM #610035], WAS [OMIM #300392]), Gendosisbestimmung Entfristet am: Seite 141 von 213

144 Neutropenie, kongenital (AP3B1 [OMIM #603401], CLPB [OMIM #616254], CSF3R [OMIM #138971], CXCR4 [OMIM #162643], ELANE [OMIM #130130], G6PC3 [OMIM #611045], GATA1 [OMIM #305371], GATA2 [OMIM #137295], GFI1 [OMIM #600871], HAX1 [OMIM #605998], xgn1 [OMIM #616012], LAMTOR2 [OMIM #610389], RAB27A [OMIM #603868], SBDS [OMIM #607444], SLC37A4 [OMIM #602671], TAZ [OMIM #300394], USB1 [OMIM #613276], VPS45 [OMIM #610035], WAS [OMIM #300392]) Neutropenie, kongenital (LYST [OMIM #606897], VPS13B [OMIM #607817]) Nicht akute Porphyrien (ALAS2 [OMIM #301300], FECH [OMIM #612386], UROD [OMIM #613521], UROS [OMIM #606938]) Nicht-dystrophische Myotonien (CLCN1 [OMIM #118425], HSPG2 [OMIM #142461], SCN4A [OMIM #603967]) Nicht-dystrophische Myotonien und periodische Paralysen (CACNA1S [OMIM #114208], CLCN1 [OMIM #118425], HSPG2 [OMIM #142461], KCNJ18 [OMIM #613236], KCNJ2 [OMIM #600681], SCN4A [OMIM #603967]) Entfristet am: Seite 142 von 213

145 Nierenagenesie/Hypoplasie (ANOS1 [OMIM#300836], BMP4 [OMIM #112262], CDC5L [OMIM#602868], DSTYK [OMIM#612666], FGF20 [OMIM#605558], FRAS1 [OMIM #607830], FREM1 [OMIM#608944], FREM2 [OMIM#608945], GREM1 [OMIM#603054], HNF1B [OMIM #189907], ITGA8 [OMIM#604063], PAX2 [OMIM#167409], RET [OMIM #164761], SALL1 [OMIM#602218], SIX2 [OMIM#604994], TRAP1 [OMIM #606219], UPK3A [OMIM#611559], WNT4 [OMIM#603490]) Nierenagenesie/Hypoplasie (BMP4 [OMIM#112262], CDC5L [OMIM #602868], DSTYK [OMIM#612666], FGF20 [OMIM#605558], HNF1B [OMIM#189907], ITGA8 [OMIM #604063], PAX2 [OMIM#167409], RET [OMIM#164761], SALL1 [OMIM #602218], SIX2 [OMIM#604994], TRAP1 [OMIM#606219], UPK3A [OMIM#611559]) Nierenagenesie/Hypoplasie (ANOS1 [OMIM#300836], FRAS1 [OMIM #607830], FREM1 [OMIM#608944], FREM2 [OMIM#608945], GREM1 [OMIM#603054], WNT4 [OMIM #603490]) Non-compaction Kardiomyopathie (NCCM)(ACTC1[OMIM#102540], CASQ2 [OMIM#114251], HCN4 [OMIM#605206], LDB3 [OMIM #605906], MYBPC3 [OMIM#600958], MYH7 [OMIM#160760], PRDM16 [OMIM#605557], TAZ [OMIM #300394], TNNT2 [OMIM#191045], TPM1 [OMIM#191010]) Entfristet am: Seite 143 von 213

146 Non-compaction Kardiomyopathie (NCCM) (ACTC1 [OMIM #102540], CASQ2 [OMIM #114251], HCN4 [OMIM #605206], LDB3 [OMIM #605906], MYBPC3 [OMIM #600958], MYH7 [OMIM #160760], PRDM16 [OMIM #605557], TAZ [OMIM #300394], TNNT2 [OMIM #191045], TPM1 [OMIM #191010]) Noonan-Syndrom (BRAF[OMIM #164757], CBL [OMIM#165360], KRAS [OMIM#190070], LZTR1 [OMIM #600574], MAP2K1 [OMIM#176872], MAP2K2 [OMIM#601263], NF1 [OMIM#613113], NRAS [OMIM #164790], PPP1CB [OMIM#600590], PTPN11 [OMIM#176876], RAF1 [OMIM#164760], RASA2 [OMIM #601589], RIT1 [OMIM#609591], RRAS [OMIM#165090], SHOC2 [OMIM#602775], SOS1 [OMIM #182530], SOS2 [OMIM#601247]) Noonan-Syndrom (BRAF[OMIM #164757], CBL [OMIM#165360], KRAS [OMIM#190070], LZTR1 [OMIM #600574], MAP2K1 [OMIM#176872], MAP2K2 [OMIM#601263], NF1 [OMIM#613113], NRAS [OMIM #164790], PPP1CB [OMIM#600590], PTPN11 [OMIM#176876], RAF1 [OMIM#164760], RASA2 [OMIM #601589], RIT1 [OMIM#609591], RRAS [OMIM#165090], SHOC2 [OMIM#602775], SOS1 [OMIM #182530], SOS2 [OMIM#601247]) Noonan-Syndrom Stufe I (PTPN11 [OMIM #176876]) Noonan-Syndrom Stufe I (PTPN11 [OMIM #176876]), Gendosisbestimmung, Gendosisbestimmung, Gendosisbestimmung Entfristet am: Seite 144 von 213

147 Noonan-Syndrom Stufe II (BRAF [OMIM#164757], CBL [OMIM #165360], KRAS [OMIM#190070], LZTR1 [OMIM#600574], MAP2K1 [OMIM#176872], MAP2K2 [OMIM #601263], MRAS [OMIM#608435], NRAS [OMIM#164790], PPP1CB [OMIM#600590], RAF1 [OMIM #164760], RASA2 [OMIM#601589], RIT1 [OMIM#609591], RRAS [OMIM #165090], SHOC2 [OMIM#602775], SOS1 [OMIM#182530], SOS2 [OMIM #601247]) Noonan-Syndrom Stufe II (BRAF [OMIM#164757], CBL [OMIM #165360], KRAS [OMIM#190070], LZTR1 [OMIM#600574], MAP2K1 [OMIM#176872], MAP2K2 [OMIM #601263], MRAS [OMIM#608435], NRAS [OMIM#164790], PPP1CB [OMIM#600590], RAF1 [OMIM #164760], RASA2 [OMIM#601589], RIT1 [OMIM#609591], RRAS [OMIM #165090], SHOC2 [OMIM#602775], SOS1 [OMIM#182530], SOS2 [OMIM #601247]) Omenn-Syndrom (OS)(ADA[OMIM #608958], AK2 [OMIM#103020], DCLRE1C [OMIM#605988], IL2RG [OMIM#308380], IL7R [OMIM #146661], xk3 [OMIM#600173], LIG4 [OMIM#601837], RAG1 [OMIM #179615], RAG2 [OMIM#179616], RMRP [OMIM#157660]), Gendosisbestimmung Entfristet am: Seite 145 von 213

148 Oncomine Focus- ALK (OMIM DNA aus FFPE-Gewebe, DNA und RNA #105590), AR (OMIM#313700), BIRC2 aus Tumorgewebe, DNA und cdna (OMIM#601712), BRAF (OMIM #164757), BRCA1 (OMIM#113705), CCND1 (OMIM#168461), CDK4 (OMIM#123829), CDK6 (OMIM #603368), CTNNB1 (OMIM#116806), EGFR (OMIM#131550), ERBB2 (OMIM #164870), ERBB3 (OMIM#190151), ERBB4 (OMIM#600543), FGFR1 (OMIM#136350), FGFR2 (OMIM #176943), FGFR3 (OMIM#134934), FGFR4 (OMIM#134935), GNA11 (OMIM#139313), GNAQ (OMIM #600998), HRAS (OMIM#190020), IDH1 (OMIM#147700), IDH2 (OMIM #147650), xk1 (OMIM#147795), xk2 (OMIM#147796), xk3 (OMIM #600173), KIT (OMIM#164920), KRAS (OMIM#190070), MAP2K1 (OMIM #176872), MED12 (300188), MET (OMIM#164860), MTOR (OMIM #607130), MYC (OMIM#190080), MYCN (OMIM#164840), NF1 (OMIM #162200), NRAS (OMIM#164790), PDGFRa (OMIM#173490), PIK3CA (OMIM#171834), RAF1 (OMIM #164760), RET (OMIM#164761), ROS1 (OMIM#165020), SMO (OMIM #601500) Oro-facio-digitales Syndrom (C2CD3 [OMIM #615944], C5orf42 [OMIM #614571], DDX59 [OMIM #615464], OFD1 [OMIM #300170], TCTN3 [OMIM #613847], TMEM216 [OMIM #613277], TMEM231 [OMIM #614949]) Oncomine, NGS semiconductor sequencing, Ion PGM-System, IonReporter (Thermofisher) Entfristet am: Seite 146 von 213

149 Osteogenesis imperfecta (OI)(BMP1 [OMIM#112264], COL1A1 [OMIM #120150], COL1A2 [OMIM#120160], CRTAP [OMIM#605497], FKBP10 [OMIM#607063], IFITM5 [OMIM #614757], LEPRE1 [OMIM#610339], P3H1 [OMIM#610339], PLOD2 [OMIM#601865], PPIB [OMIM #123841], SERPINF1 [OMIM #172860], SERPINH1 [OMIM #600943], SP7 [OMIM#606633], TMEM38B [OMIM#611236], WNT1 [OMIM#164820]) Osteogenesis Imperfecta autosomaldominant (COL1A1[OMIM#120150], COL1A2 [OMIM#120160], IFITM5 [OMIM#614757], WNT1 [OMIM #164820]) Osteogenesis Imperfecta autosomalrezessiv (BMP1[OMIM#112264], CRTAP [OMIM#605497], FKBP10 [OMIM#607063], LEPRE1 [OMIM #610339], P3H1 [OMIM#610339], PLOD2 [OMIM#601865], PPIB [OMIM #123841], SERPINF1 [OMIM #172860], SERPINH1 [OMIM #600943], SP7 [OMIM#606633], TMEM38B [OMIM#611236], WNT1 [OMIM#164820]) Ovarialkarzinom (BRCA1[OMIM# ], BRCA2 [OMIM#600185], CHEK2 [OMIM#604373], PALB2 [OMIM#610355], RAD51C [OMIM #602774]) Ovarialkarzinom (ATM[OMIM# ], CDH1 [OMIM#192090], NBN [OMIM#602667], RAD51D [OMIM #602954], TP53 [OMIM#191170]) Pankreatitis, hereditäre (CASR [OMIM #601199], CFTR [OMIM #602421], CPA1 [OMIM #114850], CTRC [OMIM #601405], PRSS1 [OMIM #276000], SPINK1 [OMIM #167790]) Entfristet am: Seite 147 von 213

150 Pankreatitis, hereditäre (CASR[OMIM #601199], CFTR [OMIM#602421], CPA1 [OMIM#114850], CTRC [OMIM #601405], PRSS1 [OMIM#276000], SPINK1 [OMIM#167790]) Periodische Paralysen (CACNA1S [OMIM#114208], KCNJ18 [OMIM #613236], KCNJ2 [OMIM#600681], SCN4A [OMIM#603967]) Polyzystische Nierenerkrankung (BICC1[OMIM#614295], BMP4 [OMIM#112262], CHD1L [OMIM #613039], FRAS1 [OMIM#607830], HNF1B [OMIM#189907], MUC1 [OMIM#158340], OFD1 [OMIM #300170], PAX2 [OMIM#167409], PKD1 [OMIM#601313], PKD2 [OMIM #173910], PKHD1 [OMIM#606702], ROBO2 [OMIM#602431], SIX2 [OMIM #604994], UMOD [OMIM#191845]) Polyzystische Nierenerkrankung - autosomal-dominant (BMP4[OMIM #112262], HNF1B [OMIM#189907], PAX2 [OMIM#167409], PKD1 [OMIM #601313], PKD2 [OMIM#173910]) Polyzystische Nierenerkrankung (BICC1[OMIM#614295], CHD1L [OMIM#613039], FRAS1 [OMIM #607830], MUC1 [OMIM#158340], OFD1 [OMIM#300170], PKHD1 [OMIM#606702], ROBO2 [OMIM #602431], SIX2 [OMIM#604994], UMOD [OMIM#191845]) Polyzystische Nierenerkrankung - autosomal-rezessiv (FRAS1 [OMIM #607830], PKHD1 [OMIM #606702]), Gendosisbestimmung Entfristet am: Seite 148 von 213

151 Polyzystische Nierenerkrankung (BICC1[OMIM#614295], BMP4 [OMIM#112262], CHD1L [OMIM #613039], HNF1B [OMIM#189907], MUC1 [OMIM#158340], OFD1 [OMIM #300170], PAX2 [OMIM#167409], PKD1 [OMIM#601313], PKD2 [OMIM #173910], ROBO2 [OMIM#602431], SIX2 [OMIM#604994], UMOD [OMIM #191845]) Porphyrien (ALAD[OMIM#125270], ALAS2 [OMIM#301300], CPOX [OMIM #612732], FECH [OMIM#612386], HMBS [OMIM#609806], PPOX [OMIM #600923], UROD [OMIM#613521], UROS [OMIM#606938]) Primäre (a-r) Mikrozephalien (ASPM [OMIM#605481], CASC5 [OMIM #609173], CDK5RAP2 [OMIM #608201], CDK6 [OMIM#603368], CENPE [OMIM#117143], CENPJ [OMIM#609279], CEP135 [OMIM #611423], CEP152 [OMIM#613529], MCPH1 [OMIM#607117], MFSD2A [OMIM#614397], PCNT [OMIM #605925], PHC1 [OMIM#602978], SASS6 [OMIM#609321], STIL [OMIM #181590], WDR62 [OMIM#613583], ZNF335 [OMIM#610827]) Primäre (a-r) Mikrozephalien (ASPM [OMIM#605481], CDK5RAP2 [OMIM #608201], CENPJ [OMIM#609279], MCPH1 [OMIM#607117], SASS6 [OMIM#609321]) Primäre (a-r) Mikrozephalien (CASC5 [OMIM#609173], CDK6 [OMIM #603368], CENPE [OMIM#117143], CEP135 [OMIM#611423], CEP152 [OMIM#613529], MFSD2A [OMIM #614397], PCNT [OMIM#605925], PHC1 [OMIM#602978], STIL [OMIM #181590], WDR62 [OMIM#613583], ZNF335 [OMIM#610827]) Entfristet am: Seite 149 von 213

152 Primäre Hypercholesterinämie (APOB [OMIM #107730], LDLR [OMIM #606945], LDLRAP1 [OMIM #605747], PCSK9 [OMIM #607786]) Primäre Hyperlipoproteinämie (ABCA1 [OMIM #600046], ANGPTL3 [OMIM #604774], APOA1 [OMIM #107680], APOA5 [OMIM #606368], APOB [OMIM #107730], APOC2 [OMIM #608083], APOE [OMIM #107741], GPIHBP1 [OMIM #612757], LCAT [OMIM #606967], LDLR [OMIM #606945], LDLRAP1 [OMIM #605747], LIPC [OMIM #151670], LPL [OMIM #609708], MTTP [OMIM #157147], PCSK9 [OMIM #607786]) Primäre Hypertriglyceridämie (APOA5 [OMIM #606368], APOC2 [OMIM #608083], GPIHBP1 [OMIM #612757], LPL [OMIM #609708]) Entfristet am: Seite 150 von 213

153 Primäre ziliäre Dyskinesie (ARMC4 [OMIM #615408], C21orf59 [OMIM #615494], CCDC103 [OMIM #614677], CCDC114 [OMIM #615038], CCDC151 [OMIM #615956], CCDC39 [OMIM #613798], CCDC40 [OMIM #613799], CCDC65 [OMIM #611088], CCNO [OMIM #607752], CENPF [OMIM #600236], DNAAF1 [OMIM #613190], DNAAF2 [OMIM #612517], DNAAF3 [OMIM #614566], DNAAF5 [OMIM #614864], DNAH1 [OMIM #603332], DNAH11 [OMIM #603339], DNAH5 [OMIM #603335], DNAH8 [OMIM #603337], DNAI1 [OMIM #604366], DNAI2 [OMIM #605483], DNAJB13 [OMIM #610263], DNAL1 [OMIM #610062], DRC1 [OMIM #615288], DYX1C1 [OMIM #608706], GAS8 [OMIM #605178], HYDIN [OMIM #610812], LRRC6 [OMIM #614930], MCIDAS [OMIM #614086], NME8 [OMIM #607421], RSPH1 [OMIM #609314], RSPH3 [OMIM #615876], RSPH4A [OMIM #612647], RSPH9 [OMIM #612648], SPAG1 [OMIM #603395], TTC25 [OMIM #617095], ZMYND10 [OMIM #607070]) Primäre ziliäre Dyskinesie (CCDC103 [OMIM #614677], CCDC39 [OMIM #613798], DNAH5 [OMIM #603335], DNAI1 [OMIM #604366], RSPH1 [OMIM #609314], SPAG1 [OMIM #603395], ZMYND10 [OMIM #607070]) Entfristet am: Seite 151 von 213

154 Primäre ziliäre Dyskinesie (ARMC4 [OMIM #615408], C21orf59 [OMIM #615494], CCDC114 [OMIM #615038], CCDC151 [OMIM #615956], CCDC40 [OMIM #613799], CCDC65 [OMIM #611088], CCNO [OMIM #607752], CENPF [OMIM #600236], DNAAF1 [OMIM #613190], DNAAF2 [OMIM #612517], DNAAF3 [OMIM #614566], DNAAF5 [OMIM #614864], DNAH1 [OMIM #603332], DNAH11 [OMIM #603339], DNAH8 [OMIM #603337], DNAI2 [OMIM #605483], DNAJB13 [OMIM #610263], DNAL1 [OMIM #610062], DRC1 [OMIM #615288], DYX1C1 [OMIM #608706], GAS8 [OMIM #605178], HYDIN [OMIM #610812], LRRC6 [OMIM #614930], MCIDAS [OMIM #614086], NME8 [OMIM #607421], RSPH3 [OMIM #615876], RSPH4A [OMIM #612647], RSPH9 [OMIM #612648], TTC25 [OMIM #617095]) Entfristet am: Seite 152 von 213

155 Progressive Muskeldystrophien (ANO5[OMIM#608662], CAPN3 [OMIM#114240], CAV3 [OMIM #601253], DAG1 [OMIM#128239], DES [OMIM#125660], DMD [OMIM #300377], DNAJB6 [OMIM#611332], DYSF [OMIM#603009], EMD [OMIM #300384], FHL1 [OMIM#300163], FKRP [OMIM#606596], FKTN [OMIM #607440], GAA [OMIM#606800], GMPPB [OMIM#615320], HNRNPDL [OMIM#607137], ISPD [OMIM #614631], LIMS2 [OMIM#607908], LMNA [OMIM#150330], MYOT [OMIM#604103], PLEC [OMIM #601282], POMGNT1 [OMIM #606822], POMK [OMIM#615247], POMT1 [OMIM#607423], POMT2 [OMIM#607439], SGCA [OMIM #600119], SGCB [OMIM#600900], SGCD [OMIM#601411], SGCG [OMIM #608896], SYNE1 [OMIM#608441], SYNE2 [OMIM#608442], TCAP [OMIM #604488], TMEM43 [OMIM#612048], TNPO3 [OMIM#610032], TRAPPC11 [OMIM#614138], TRIM32 [OMIM #602290], TTN [OMIM#188840]) Progressive Muskeldystrophien (Gliedergürtelmuskeldystrophien AD + AR) (ANO5[OMIM#608662], CAPN3 [OMIM#114240], CAV3 [OMIM #601253], DYSF [OMIM#603009], FKRP [OMIM#606596], FKTN [OMIM #607440], LMNA [OMIM#150330], MYOT [OMIM#604103], SGCA [OMIM #600119], SGCB [OMIM#600900], SGCD [OMIM#601411], SGCG [OMIM #608896], TCAP [OMIM#604488], TRIM32 [OMIM#602290]) Progressive Muskeldystrophien (Typ Duchenne/Typ Becker) (DMD [OMIM #300377]) Entfristet am: Seite 153 von 213

156 Progressive myoklonische Epilepsien (CERS1 [OMIM #606919], CSTB [OMIM #601145], EPM2A [OMIM #607566], GOSR2 [OMIM #604027], KCNC1 [OMIM #176258], KCTD7 [OMIM #611725], LMNB2 [OMIM #150341], NHLRC1 [OMIM #608072], PRDM8 [OMIM #616639], PRICKLE1 [OMIM #608500], PRICKLE2 [OMIM #608501], SCARB2 [OMIM #602257]) Pulmonale arterielle Hypertonie (PAH) (ACVRL1[OMIM#601284], BMPR1B [OMIM#603248], BMPR2 [OMIM #600799], CAV1 [OMIM#601047], EIF2AK4 [OMIM#609280], ENG [OMIM#131195], GDF2 [OMIM #605120], KCNA5 [OMIM#176267], KCNK3 [OMIM#603220], NOTCH3 [OMIM#600276], SMAD1 [OMIM #601595], SMAD4 [OMIM#600993], SMAD9 [OMIM#603295], TBX4 [OMIM#601719]) Pulmonale arterielle Hypertonie (PAH) (ACVRL1 [OMIM #601284], BMPR1B [OMIM #603248], BMPR2 [OMIM #600799], CAV1 [OMIM #601047], EIF2AK4 [OMIM #609280], ENG [OMIM #131195], GDF2 [OMIM #605120], KCNA5 [OMIM #176267], KCNK3 [OMIM #603220], SMAD1 [OMIM #601595], SMAD4 [OMIM #600993], SMAD9 [OMIM #603295], TBX4 [OMIM #601719]) Pulmonale arterielle Hypertonie (PAH) (NOTCH3 [OMIM #600276]) Entfristet am: Seite 154 von 213

157 RASopathien (BRAF [OMIM #164757], CBL [OMIM #165360], HRAS [OMIM #190020], KRAS [OMIM #190070], LZTR1 [OMIM #600574], MAP2K1 [OMIM #176872], MAP2K2 [OMIM #601263], NF1 [OMIM #613113], NRAS [OMIM #164790], PPP1CB [OMIM #600590], PTPN11 [OMIM #176876], RAF1 [OMIM #164760], RASA2 [OMIM #601589], RIT1 [OMIM #609591], RRAS [OMIM #165090], SHOC2 [OMIM #602775], SOS1 [OMIM #182530], SOS2 [OMIM #601247], SPRED1 [OMIM #609291]) RASopathien (BRAF [OMIM #164757], CBL [OMIM #165360], HRAS [OMIM #190020], KRAS [OMIM #190070], LZTR1 [OMIM #600574], MAP2K1 [OMIM #176872], MAP2K2 [OMIM #601263], NF1 [OMIM #613113], NRAS [OMIM #164790], PPP1CB [OMIM #600590], PTPN11 [OMIM #176876], RAF1 [OMIM #164760], RASA2 [OMIM #601589], RIT1 [OMIM #609591], RRAS [OMIM #165090], SHOC2 [OMIM #602775], SOS1 [OMIM #182530], SOS2 [OMIM #601247], SPRED1 [OMIM #609291]) RASopathien (HRAS[OMIM#190020], NF1 [OMIM#613113], SPRED1 [OMIM #609291]) RASopathien (HRAS[OMIM#190020], NF1 [OMIM#613113], SPRED1 [OMIM #609291]), Gendosisbestimmung, Gendosisbestimmung Entfristet am: Seite 155 von 213

158 RASopathien mit Herzfehlern (BRAF [OMIM #164757], CBL [OMIM #165360], HRAS [OMIM #190020], KRAS [OMIM #190070], MAP2K1 [OMIM #176872], MAP2K2 [OMIM #601263], NRAS [OMIM #164790], PPP1CB [OMIM #600590], PTPN11 [OMIM #176876], RAF1 [OMIM #164760], RASA2 [OMIM #601589], RIT1 [OMIM #609591], SOS1 [OMIM #182530], SOS2 [OMIM #601247]) RASopathien mit Herzfehlern (BRAF [OMIM#164757], CBL [OMIM #165360], HRAS [OMIM#190020], KRAS [OMIM#190070], MAP2K1 [OMIM#176872], MAP2K2 [OMIM #601263], NRAS [OMIM#164790], PPP1CB [OMIM#600590], PTPN11 [OMIM#176876], RAF1 [OMIM #164760], RASA2 [OMIM#601589], RIT1 [OMIM#609591], SOS1 [OMIM #182530], SOS2 [OMIM#601247]) RASopathien mit Herzfehlern (BRAF [OMIM#164757], HRAS [OMIM #190020], KRAS [OMIM#190070], MAP2K1 [OMIM#176872], MAP2K2 [OMIM#601263], PTPN11 [OMIM #176876], RAF1 [OMIM#164760], RIT1 [OMIM#609591], SOS1 [OMIM #182530]) RASopathien mit Herzfehlern (BRAF [OMIM#164757], HRAS [OMIM #190020], KRAS [OMIM#190070], MAP2K1 [OMIM#176872], MAP2K2 [OMIM#601263], PTPN11 [OMIM #176876], RAF1 [OMIM#164760], RIT1 [OMIM#609591], SOS1 [OMIM #182530]) RASopathien mit Herzfehlern (CBL [OMIM#165360], NRAS [OMIM #164790], PPP1CB [OMIM#600590], RASA2 [OMIM#601589], SOS2 [OMIM #601247]), Gendosisbestimmung, Gendosisbestimmung Entfristet am: Seite 156 von 213

159 RASopathien mit Herzfehlern (CBL [OMIM#165360], NRAS [OMIM #164790], PPP1CB [OMIM#600590], RASA2 [OMIM#601589], SOS2 [OMIM #601247]) Renale tubuläre Dysgenesie (ACE [OMIM#106180], AGT [OMIM #106150], AGTR1 [OMIM#106165], REN [OMIM#179820]) Retinitis pigmentosa (ABCA4 [OMIM #601691], ARL6 [OMIM #608845], BEST1 [OMIM #607854], C2orf71 [OMIM #613425], C8orf37 [OMIM #614477], CA4 [OMIM #114760], CDHR1 [OMIM #609502], CERKL [OMIM #608381], CLRN1 [OMIM #606397], CNGA1 [OMIM #123825], CNGB1 [OMIM #600724], CRB1 [OMIM #604210], DHDDS [OMIM #608172], EYS [OMIM #612424], FAM161A [OMIM #613596], FSCN2 [OMIM #607643], GUCA1B [OMIM #602275], IDH3B [OMIM #604526], IFT172 [OMIM #607386], IMPDH1 [OMIM #146690], IMPG2 [OMIM #607056], KIZ [OMIM #615757], KLHL7 [OMIM #611119], MAK [OMIM #154235], MERTK [OMIM #604705], NEK2 [OMIM #604043], NR2E3 [OMIM #604485], NRL [OMIM #162080], OFD1 [OMIM #300170], PDE6A [OMIM #180071], PDE6B [OMIM #180072], PDE6G [OMIM #180073], PRCD [OMIM #610598], PROM1 [OMIM #604365], PRPF3 [OMIM #607301], PRPF31 [OMIM #606419], PRPF4 [OMIM #607795], PRPF6 [OMIM #613979], Fortsetzung der Zeile auf der nächsten Seite, Gendosisbestimmung Entfristet am: Seite 157 von 213

160 Fortsetzung der Zeile von der vorherigen Seite PRPF8 [OMIM#607300], PRPH2 [OMIM#179605], RBP3 [OMIM #180290], RGR [OMIM#600342], RHO [OMIM#180380], ROM1 [OMIM #180721], RP1 [OMIM#603937], RP2 [OMIM#300757], RP9 [OMIM #607331], RPE65 [OMIM#180069], RPGR [OMIM#312610], SAG [OMIM #181031], SEMA4A [OMIM#607292], SLC7A14 [OMIM#615720], SNRNP200 [OMIM#601664], TOPORS [OMIM #609507], TTC8 [OMIM#608132], TULP1 [OMIM#602280], USH2A [OMIM#608400], ZNF408 [OMIM #616454], ZNF513 [OMIM#613598]) Retinitis pigmentosa (EYS[OMIM #612424], PRPF31 [OMIM#606419], PRPH2 [OMIM#179605], RHO [OMIM #180380], RP1 [OMIM#603937], RP2 [OMIM#300757], RPGR [OMIM #312610]) Rett-Syndrom und ähnliche Erkrankungen (ALDH5A1[OMIM #610045], ARX [OMIM#300382], BDNF [OMIM#113505], CDKL5 [OMIM#300203], CNTNAP2 [OMIM #604569], FOXG1 [OMIM#164874], FOXP2 [OMIM#605317], IQSEC2 [OMIM#300522], KCNA2 [OMIM #176262], KCNQ2 [OMIM#602235], MECP2 [OMIM#300005], MEF2C [OMIM#600662], NRXN1 [OMIM #600565], NTNG1 [OMIM#608818], PLP1 [OMIM#300401], SCN2A [OMIM #182390], SCN8A [OMIM#600702], SHANK3 [OMIM#606230], STXBP1 [OMIM#602926], TCF4 [OMIM #602272], UBE3A [OMIM#601623], ZEB2 [OMIM#605802]) Entfristet am: Seite 158 von 213

161 Rett-Syndrom und ähnliche Erkrankungen (CDKL5 [OMIM #300203], FOXG1 [OMIM #164874], IQSEC2 [OMIM #300522], MECP2 [OMIM #300005], MEF2C [OMIM #600662], NTNG1 [OMIM #608818], STXBP1 [OMIM #602926], TCF4 [OMIM #602272], UBE3A [OMIM #601623], ZEB2 [OMIM #605802]) Rett-Syndrom und ähnliche Erkrankungen (ALDH5A1[OMIM #610045], ARX [OMIM#300382], BDNF [OMIM#113505], CNTNAP2 [OMIM#604569], FOXP2 [OMIM #605317], KCNA2 [OMIM#176262], KCNQ2 [OMIM#602235], NRXN1 [OMIM#600565], PLP1 [OMIM #300401], SCN2A [OMIM#182390], SCN8A [OMIM#600702], SHANK3 [OMIM#606230]) Robinow-Syndrom (DVL1[OMIM #601365], DVL3 [OMIM#601368], ROR2 [OMIM#602337], WNT5A [OMIM#164975]) Rubinstein-Taybi-Syndrom (CREBBP [OMIM #600140], EP300 [OMIM #602700]) Schwere kombinierte Immundefekte (T-B-) (ADA [OMIM #608958], AK2 [OMIM #103020], DCLRE1C [OMIM #605988], LIG4 [OMIM #601837], NHEJ1 [OMIM #611290], PRKDC [OMIM #600899], RAG1 [OMIM #179615], RAG2 [OMIM #179616]) Schwere kombinierte Immundefekte (T-B+)(CD247[OMIM#186780], CD3D [OMIM#186790], CD3E [OMIM #186830], CORO1A [OMIM#605000], FOXN1 [OMIM#600838], IL2RG [OMIM#308380], IL7R [OMIM #146661], xk3 [OMIM#600173], PTPRC [OMIM#151460]) Entfristet am: Seite 159 von 213

162 Senior-Løken-Syndrom (CEP290 [OMIM#610142], INVS [OMIM #243305], IQCB1 [OMIM#609237], NPHP1 [OMIM#607100], NPHP3 [OMIM#608002], NPHP4 [OMIM #607215], SDCCAG8 [OMIM#613524], TRAF3IP1 [OMIM#607380], WDR19 [OMIM#608151]) Senior-Løken-Syndrom (CEP290 [OMIM#610142], INVS [OMIM #243305], IQCB1 [OMIM#609237], NPHP1 [OMIM#607100], NPHP3 [OMIM#608002], NPHP4 [OMIM #607215], SDCCAG8 [OMIM #613524]) Senior-Løken-Syndrom (TRAF3IP1 [OMIM #607380], WDR19 [OMIM #608151]) Spastische Ataxien (ABHD12 [OMIM #613599], AFG3L2 [OMIM #604581], CAPN1 [OMIM #114220], GBA2 [OMIM #609471], KIF1C [OMIM #603060], MARS2 [OMIM #609728], MTPAP [OMIM #613669], SACS [OMIM #604490], SPG7 [OMIM #602783], VAMP1 [OMIM #185880]) Spastische Ataxien (AFG3L2[OMIM #604581], KIF1C [OMIM#603060], MTPAP [OMIM#613669], SACS [OMIM#604490], SPG7 [OMIM #602783], VAMP1 [OMIM#185880]) Spastische Ataxien (GBA2[OMIM #609471], MARS2 [OMIM#609728]) Entfristet am: Seite 160 von 213

163 Spinale Muskelatrophien (ASAH1 [OMIM #613468], ATP7A [OMIM #300011], BICD2 [OMIM #609797], BSCL2 [OMIM #606158], CHCHD10 [OMIM #615903], DNAJB2 [OMIM #604139], DYNC1H1 [OMIM #600112], EXOSC3 [OMIM #606489], EXOSC8 [OMIM #606019], FBXO38 [OMIM #608533], GARS [OMIM #600287], HSPB8 [OMIM #608014], IGHMBP2 [OMIM #600502], PLEKHG5 [OMIM #611101], REEP1 [OMIM #609139], SLC5A7 [OMIM #608761], TFG [OMIM #602498], TRPV4 [OMIM #605427], UBA1 [OMIM #314370], VAPB [OMIM #605704], VRK1 [OMIM #602168]) Spinale Muskelatrophien (neonatal/frühmanifestierend) und Pontocerebelläre Hypolasie (ASAH1 [OMIM #613468], ATP7A [OMIM #300011], EXOSC3 [OMIM #606489], EXOSC8 [OMIM #606019], IGHMBP2 [OMIM #600502], PLEKHG5 [OMIM #611101], TRPV4 [OMIM #605427], UBA1 [OMIM #314370], VRK1 [OMIM #602168]) Spinale Muskelatrophien (spätmanifestierend) (ATP7A [OMIM #300011], BICD2 [OMIM #609797], BSCL2 [OMIM #606158], CHCHD10 [OMIM #615903], DNAJB2 [OMIM #604139], FBXO38 [OMIM #608533], GARS [OMIM #600287], HSPB8 [OMIM #608014], REEP1 [OMIM #609139], SLC5A7 [OMIM #608761], TFG [OMIM #602498], TRPV4 [OMIM #605427], VAPB [OMIM #605704]) Entfristet am: Seite 161 von 213

164 Sprachentwicklungsstörungen (CNTNAP2 [OMIM #604569], DYRK1A [OMIM #600855], FOXP1 [OMIM #605515], FOXP2 [OMIM #605317], GALT [OMIM #606999], GRIN2A [OMIM #138253], KANSL1 [OMIM #612452], MBD5 [OMIM #611472], NRXN1 [OMIM #600565], PCDH11X [OMIM #300246], RAI1 [OMIM #607642], SETBP1 [OMIM #611060], SHANK3 [OMIM #606230], SOX5 [OMIM #604975], TM4SF20 [OMIM #615404]) Sprachentwicklungsstörungen (CNTNAP2[OMIM#604569], FOXP1 [OMIM#605515], FOXP2 [OMIM #605317], KANSL1 [OMIM#612452], NRXN1 [OMIM#600565], SETBP1 [OMIM#611060], SOX5 [OMIM #604975], TM4SF20 [OMIM#615404]) Sprachentwicklungsstörungen (DYRK1A[OMIM#600855], GALT [OMIM#606999], MBD5 [OMIM #611472], PCDH11X [OMIM#300246], RAI1 [OMIM#607642], SHANK3 [OMIM#606230]) Stickler-Syndrom (Augenerkrankung) (COL11A1[OMIM#120280], COL2A1 [OMIM#120140], COL9A1 [OMIM #120210], COL9A2 [OMIM#120260]) Stickler-Syndrom (Augenerkrankung) (COL11A1 [OMIM #120280], COL2A1 [OMIM #120140], COL9A1 [OMIM #120210], COL9A2 [OMIM #120260]) Stickler-Syndrom (Bindegewebserkrankung) (COL11A1 [OMIM #120280], COL11A2 [OMIM #120290], COL2A1 [OMIM #120140], COL9A1 [OMIM #120210], COL9A2 [OMIM #120260]), Gendosisbestimmung Entfristet am: Seite 162 von 213

165 Stickler-Syndrom (Bindegewebserkrankung)(COL11A1 [OMIM#120280], COL11A2 [OMIM #120290], COL2A1 [OMIM#120140], COL9A1 [OMIM#120210], COL9A2 [OMIM#120260]) Stoffwechselerkrankungen (ABCA1 [OMIM#600046], ABCC8 [OMIM #600509], AGXT [OMIM#604285], ALAD [OMIM#125270], ALAS2 [OMIM #301300], ALG1 [OMIM#605907], ALG11 [OMIM#613666], ALG12 [OMIM#607144], ALG13 [OMIM #300776], ALG2 [OMIM#607905], ALG3 [OMIM#608750], ALG6 [OMIM #604566], ALG8 [OMIM#608103], ALG9 [OMIM#606941], ANGPTL3 [OMIM#604774], APOA1 [OMIM #107680], APOA5 [OMIM#606368], APOB [OMIM#107730], APOC2 [OMIM#608083], APOE [OMIM #107741], APPL1 [OMIM#604299], ARG1 [OMIM#608313], ARSB [OMIM #611542], ASL [OMIM#608310], ASS1 [OMIM#603470], B4GALT1 [OMIM #137060], BLK [OMIM#191305], CACNA1S [OMIM#114208], CAD [OMIM#114010], CCDC115 [OMIM #613734], CEL [OMIM#114840], COG1 [OMIM#606973], COG4 [OMIM #606976], COG5 [OMIM#606821], COG6 [OMIM#606977], COG7 [OMIM #606978], COG8 [OMIM#606979], CPOX [OMIM#612732], CPS1 [OMIM #608307], DDOST [OMIM#602202], DOLK [OMIM#610746], DPAGT1 [OMIM #191350], DPM1 [OMIM#603503], DPM2 [OMIM#603564], DPM3 [OMIM#605951], FECH [OMIM #612386], GALNS [OMIM#612222], GCK [OMIM#138079], GLB1 [OMIM #611458], GPIHBP1 [OMIM#612757], GRHPR [OMIM#604296], Fortsetzung der Zeile auf der nächsten Seite, Gendosisbestimmung Entfristet am: Seite 163 von 213

166 Fortsetzung der Zeile von der vorherigen Seite GUSB [OMIM#611499], HGSNAT [OMIM#610453], HMBS [OMIM #609806], HNF1A [OMIM#142410], HNF1B [OMIM#189907], HNF4A [OMIM#600281], HOGA1 [OMIM #613597], HYAL1 [OMIM#607071], IDS [OMIM#300823], IDUA [OMIM #252800], INS [OMIM#176730], KCNJ11 [OMIM#600937], KLF11 [OMIM#603301], LCAT [OMIM #606967], LDLR [OMIM#606945], LDLRAP1 [OMIM#605747], LIPC [OMIM#151670], LPL [OMIM #609708], MGAT2 [OMIM#602616], MOGS [OMIM#601336], MPDU1 [OMIM#604041], MPI [OMIM #154550], MTTP [OMIM#157147], NAGLU [OMIM#609701], NAGS [OMIM#608300], NEUROD1 [OMIM #601724], NGLY1 [OMIM#610661], OTC [OMIM#300461], PAX4 [OMIM #167413], PCSK9 [OMIM#607786], PDX1 [OMIM #600733], PGM1 [OMIM #171900], PMM2 [OMIM #601785], PPOX [OMIM #600923], RFT1 [OMIM #611908], RYR1 [OMIM #180901], SGSH [OMIM #605270], SLC25A13 [OMIM #603859], SLC25A15 [OMIM #603861], SLC35A1 [OMIM #605634], SLC35A2 [OMIM #314375], SLC35C1 [OMIM #605881], SLC39A8 [OMIM #608732], SRD5A3 [OMIM #611715], SSR4 [OMIM #300090], STT3A [OMIM #601134], STT3B [OMIM #608605], TMEM165 [OMIM #614726], TMEM199 [OMIM #616815], TUSC3 [OMIM #601385], UROD [OMIM #613521], UROS [OMIM #606938]) Entfristet am: Seite 164 von 213

167 Stoffwechselmyopathien (Defekte der mitochondrialen ß-Oxidation und Mitochondriale Deletionssyndrome (MTDPS) und Mypathie) (ACADVL [OMIM #609575], AGK [OMIM #610345], ALDOA [OMIM #103850], C10orf2 [OMIM #606075], CPT2 [OMIM #600650], DGUOK [OMIM #601465], ETFA [OMIM #608053], ETFB [OMIM #130410], ETFDH [OMIM #231675], FBXL4 [OMIM #605654], GAA [OMIM #606800], HADHA [OMIM #600890], HADHB [OMIM #143450], LDHA [OMIM #150000], LPIN1 [OMIM #605518], MGME1 [OMIM #615076], MPV17 [OMIM #137960], PFKM [OMIM #610681], PGAM2 [OMIM #612931], PHKA1 [OMIM #311870], PHKB [OMIM #172490], POLG [OMIM #174763], PYGM [OMIM #608455], RRM2B [OMIM #604712], SLC25A20 [OMIM #613698], SLC25A4 [OMIM #103220], SUCLA2 [OMIM #603921], SUCLG1 [OMIM #611224], TK2 [OMIM #188250], TYMP [OMIM #131222]) Stoffwechselmyopathien (Defekte der mitochondrialen ß-Oxidation und Mitochondriale Deletionssyndrome (MTDPS) und Mypathie) (ACADVL [OMIM #609575], AGK [OMIM #610345], C10orf2 [OMIM #606075], DGUOK [OMIM #601465], ETFA [OMIM #608053], ETFB [OMIM #130410], ETFDH [OMIM #231675], HADHA [OMIM #600890], HADHB [OMIM #143450], POLG [OMIM #174763], RRM2B [OMIM #604712], SUCLA2 [OMIM #603921], SUCLG1 [OMIM #611224], TK2 [OMIM #188250], TYMP [OMIM #131222]) Entfristet am: Seite 165 von 213

168 Stoffwechselmyopathien (ALDOA [OMIM #103850], CPT2 [OMIM #600650], FBXL4 [OMIM #605654], GAA [OMIM #606800], LDHA [OMIM #150000], LPIN1 [OMIM #605518], MGME1 [OMIM #615076], MPV17 [OMIM #137960], PFKM [OMIM #610681], PGAM2 [OMIM #612931], PHKA1 [OMIM #311870], PHKB [OMIM #172490], PYGM [OMIM #608455], SLC25A20 [OMIM #613698], SLC25A4 [OMIM #103220]) Stoffwechselmyopathien (Glycogenosen mit muskulärer Symptomatik und Carnitinstoffwechselstörungen) (ACADVL[OMIM#609575], AGK [OMIM#610345], ALDOA [OMIM #103850], C10orf2 [OMIM#606075], CPT2 [OMIM#600650], DGUOK [OMIM#601465], ETFA [OMIM #608053], ETFB [OMIM#130410], ETFDH [OMIM#231675], FBXL4 [OMIM#605654], GAA [OMIM #606800], HADHA [OMIM#600890], HADHB [OMIM#143450], LAMA2 [OMIM#156225], LDHA [OMIM #150000], LPIN1 [OMIM#605518], MGME1 [OMIM#615076], MPV17 [OMIM#137960], PFKM [OMIM #610681], PGAM2 [OMIM#612931], PHKA1 [OMIM#311870], PHKB [OMIM#172490], POLG [OMIM #174763], PYGM [OMIM#608455], RRM2B [OMIM#604712], SLC25A20 [OMIM#613698], SLC25A4 [OMIM #103220], SUCLA2 [OMIM#603921], SUCLG1 [OMIM#611224], TK2 [OMIM #188250], TYMP [OMIM#131222]) Entfristet am: Seite 166 von 213

169 Stoffwechselmyopathien (Glycogenosen mit muskulärer Symptomatik und Carnitinstoffwechselstörungen) (ALDOA[OMIM#103850], CPT2 [OMIM#600650], GAA [OMIM #606800], LDHA [OMIM#150000], PFKM [OMIM#610681], PGAM2 [OMIM#612931], PHKA1 [OMIM #311870], PHKB [OMIM#172490], PYGM [OMIM#608455], SLC25A20 [OMIM#613698]) Stoffwechselmyopathien (ACADVL [OMIM#609575], AGK [OMIM #610345], C10orf2 [OMIM#606075], DGUOK [OMIM#601465], ETFA [OMIM#608053], ETFB [OMIM #130410], ETFDH [OMIM#231675], FBXL4 [OMIM#605654], HADHA [OMIM#600890], HADHB [OMIM #143450], LAMA2 [OMIM#156225], LPIN1 [OMIM#605518], MGME1 [OMIM#615076], MPV17 [OMIM #137960], POLG [OMIM#174763], RRM2B [OMIM#604712], SLC25A4 [OMIM#103220], SUCLA2 [OMIM #603921], SUCLG1 [OMIM#611224], TK2 [OMIM#188250], TYMP [OMIM #131222]) Entfristet am: Seite 167 von 213

170 Syndromale Herzfehler (ADAMTS10 [OMIM #608990], ARHGAP31 [OMIM #610911], CHD7 [OMIM #608892], CREBBP [OMIM #600140], DOCK6 [OMIM #614194], EHMT1 [OMIM #607001], EOGT [OMIM #614789], EP300 [OMIM #602700], EVC [OMIM #604831], EVC2 [OMIM #607261], FBN1 [OMIM #134797], FBN2 [OMIM #612570], FLNA [OMIM #300017], FOXC1 [OMIM #601090], GPC3 [OMIM #300037], xg1 [OMIM #601920], KDM6A [OMIM #300128], KMT2D [OMIM #602113], MED12 [OMIM #300188], MGP [OMIM #154870], MYH11 [OMIM #160745], NIPBL [OMIM #608667], NOTCH1 [OMIM #190198], NOTCH2 [OMIM #600275], NSD1 [OMIM #606681], PITX2 [OMIM #601542], RBM10 [OMIM #300080], RBPJ [OMIM #147183], SALL1 [OMIM #602218], SALL4 [OMIM #607343], SEMA3E [OMIM #608166], TBX3 [OMIM #601621], TBX5 [OMIM #601620], TFAP2B [OMIM #601601], TGFBR1 [OMIM #190181], TGFBR2 [OMIM #190182], ZEB2 [OMIM #605802]) Syndromale Herzfehler (EVC [OMIM #604831], EVC2 [OMIM #607261], xg1 [OMIM #601920], NOTCH2 [OMIM #600275], SALL4 [OMIM #607343], TBX3 [OMIM #601621], TBX5 [OMIM #601620]) Entfristet am: Seite 168 von 213

171 Syndromale Herzfehler (ADAMTS10 [OMIM#608990], ARHGAP31 [OMIM #610911], CHD7 [OMIM#608892], CREBBP [OMIM#600140], DOCK6 [OMIM#614194], EHMT1 [OMIM #607001], EOGT [OMIM#614789], EP300 [OMIM#602700], FBN1 [OMIM #134797], FBN2 [OMIM#612570], FLNA [OMIM#300017], FOXC1 [OMIM #601090], GPC3 [OMIM#300037], KDM6A [OMIM#300128], KMT2D [OMIM#602113], MED12 [OMIM #300188], MGP [OMIM#154870], MYH11 [OMIM#160745], NIPBL [OMIM#608667], NOTCH1 [OMIM #190198], NSD1 [OMIM#606681], PITX2 [OMIM#601542], RBM10 [OMIM#300080], RBPJ [OMIM #147183], SALL1 [OMIM#602218], SEMA3E [OMIM#608166], TFAP2B [OMIM#601601], TGFBR1 [OMIM #190181], TGFBR2 [OMIM#190182], ZEB2 [OMIM#605802]) Entfristet am: Seite 169 von 213

172 Taubheit (ABHD12[OMIM#613599], ACTG1 [OMIM#102560], ADCY1 [OMIM#103072], ADGRV1 [OMIM #602851], ATP6V1B1 [OMIM #192132], BDP1 [OMIM#607012], BSND [OMIM#606412], CABP2 [OMIM#607314], CCDC50 [OMIM #611051], CDC14A [OMIM#603504], CDH23 [OMIM#605516], CEACAM16 [OMIM#614591], CIB2 [OMIM #605564], CLDN14 [OMIM#605608], CLIC5 [OMIM#607293], CLPP [OMIM #601119], CLRN1 [OMIM#606397], COCH [OMIM#603196], COL11A2 [OMIM#120290], COL4A6 [OMIM #303631], CRYM [OMIM#123740], DCDC2 [OMIM#605755], DFNA5 [OMIM#608798], DFNB59 [OMIM #610219], DIABLO [OMIM#605219], DIAPH1 [OMIM#602121], DIAPH3 [OMIM#614567], DSPP [OMIM #125485], ELMOD3 [OMIM#615427], EPS8 [OMIM#600206], EPS8L2 [OMIM#614988], ESPN [OMIM #606351], ESRRB [OMIM#602167], EYA1 [OMIM#601653], EYA4 [OMIM #603550], FAM65B [OMIM#611410], FOXI1 [OMIM#601093], GIPC3 [OMIM#608792], GJB2 [OMIM #121011], GJB3 [OMIM#603324], GJB6 [OMIM#604418], GPSM2 [OMIM#609245], GRHL2 [OMIM #608576], GRXCR1 [OMIM#613283], GRXCR2 [OMIM#615762], HARS [OMIM#142810], HGF [OMIM #142409], HOMER2 [OMIM#604799], ILDR1 [OMIM#609739], KARS [OMIM #601421], KCNE1 [OMIM #176261],KCNJ10[OMIM#602208], KCNQ1 [OMIM#607542], KCNQ4 [OMIM#603537], KITLG [OMIM #184745], LHFPL5 [OMIM#609427], LOXHD1 [OMIM#613072], Fortsetzung der Zeile auf der nächsten Seite Entfristet am: Seite 170 von 213

173 Fortsetzung der Zeile von der vorherigen Seite LRTOMT [OMIM#612414], MARVELD2 [OMIM#610572], MET [OMIM#164860], MIR182 [OMIM #611607], MIR183 [OMIM#611608], MIR96 [OMIM#611606], MSRB3 [OMIM#613719], MT-ATP6 [OMIM #516060], MT-ATP8 [OMIM#516070], MT-CO2 [OMIM#516040], MT-CO3 [OMIM#516050], MT-COI [OMIM #516030], MT-CYB [OMIM#516020], MT-L2 [OMIM#590055], MT-ND1 [OMIM#516000], MT-ND2 [OMIM #516001], MT-ND3 [OMIM#516002], MT-ND4 [OMIM#516003], MT-ND4L [OMIM#516004], MT-ND5 [OMIM #516005], MT-ND6 [OMIM#516006], MT-RNR1 [OMIM#180450], MT-RNR2 [OMIM#180451], MT-TA [OMIM #590000], MT-TD [OMIM#590015], MT-TE [OMIM#590025], MT-TF [OMIM#590070], MT-TG [OMIM #590035], MT-TH [OMIM#590040], MT-TI [OMIM#590045], MT-TK [OMIM#590060], MT-TL1 [OMIM #590050], MT-TM [OMIM#590065], MT-TN [OMIM#590010], MT-TP [OMIM#590075], MT-TQ [OMIM #590030], MT-TR [OMIM#590005], MT-TS1 [OMIM#590080], MT-TS2 [OMIM#590085], MT-TT [OMIM #590090], MT-TV [OMIM#590105], MT-TV [OMIM#590020], MT-TW [OMIM#590095], MT-TY [OMIM #590100], MYH14 [OMIM#608568], Fortsetzung der Zeile auf der nächsten Seite Entfristet am: Seite 171 von 213

174 Fortsetzung der Zeile von der vorherigen Seite MYH9 [OMIM#160775], MYO15A [OMIM#602666], MYO1A [OMIM #601478], MYO3A [OMIM#606808], MYO6 [OMIM#600970], MYO7A [OMIM#276903], NARS2 [OMIM #612803], OSBPL2 [OMIM#606731], OTOA [OMIM#607038], OTOF [OMIM #603681], OTOG [OMIM#604487], OTOGL [OMIM#614925], P2RX2 [OMIM#600844], PCDH15 [OMIM#605514], PDZD7 [OMIM #612971], PNPT1 [OMIM#610316], POU3F4 [OMIM#300039], POU4F3 [OMIM#602460], PRPS1 [OMIM #311850], PTPRQ [OMIM#603317], RDX [OMIM#179410], S1PR2 [OMIM #605111], SERPINB6 [OMIM #173321], SIX1 [OMIM#601205], SIX5 [OMIM#600963], SLC17A8 [OMIM #607557], SLC26A4 [OMIM#605646], SLC26A5 [OMIM#604943], SLITRK6 [OMIM#609681], SMPX [OMIM #300226], STRC [OMIM#606440], SYNE4 [OMIM#615535], TBC1D24 [OMIM#613577], TECTA [OMIM #602574], TJP2 [OMIM#607709], TMC1 [OMIM#606706], TMEM132E [OMIM#616178], TMIE [OMIM #607237], TMPRSS3 [OMIM#605511], TNC [OMIM#187380], TPRN [OMIM #613354], TRIOBP [OMIM#609761], TSPEAR [OMIM#612920], USH1C [OMIM#605242], USH1G [OMIM #607696], USH2A [OMIM#608400], WFS1 [OMIM#606201], WHRN [OMIM#607928]) Entfristet am: Seite 172 von 213

175 Taubheit autosomal-dominant (AD) (ACTG1[OMIM#102560], CCDC50 [OMIM#611051], CEACAM16 [OMIM #614591], COCH [OMIM#603196], COL11A2 [OMIM#120290], COL4A6 [OMIM#303631], CRYM [OMIM #123740], DFNA5 [OMIM#608798], DIABLO [OMIM#605219], DIAPH1 [OMIM#602121], DIAPH3 [OMIM #614567], DSPP [OMIM#125485], EYA4 [OMIM#603550], GJB2 [OMIM #121011], GJB3 [OMIM#603324], GJB6 [OMIM#604418], GRHL2 [OMIM #608576], HOMER2 [OMIM#604799], KCNQ4 [OMIM#603537], KITLG [OMIM#184745], MIR182 [OMIM #611607], MIR183 [OMIM#611608], MIR96 [OMIM#611606], MYH14 [OMIM#608568], MYH9 [OMIM #160775], MYO1A [OMIM#601478], MYO6 [OMIM#600970], MYO7A [OMIM#276903], OSBPL2 [OMIM #606731], P2RX2 [OMIM#600844], POU3F4 [OMIM#300039], POU4F3 [OMIM#602460], PRPS1 [OMIM #311850], SIX1 [OMIM#601205], SLC17A8 [OMIM#607557], SMPX [OMIM#300226], TBC1D24 [OMIM #613577], TECTA [OMIM#602574], TJP2 [OMIM #607709], TMC1 [OMIM #606706], TNC [OMIM #187380], WFS1 [OMIM #606201]) Taubheit autosomal-dominant (AD) (ACTG1 [OMIM #102560], COCH [OMIM #603196], COL11A2 [OMIM #120290], DFNA5 [OMIM #608798], DIAPH1 [OMIM #602121], KCNQ4 [OMIM #603537], MYH14 [OMIM #608568], WFS1 [OMIM #606201]) Entfristet am: Seite 173 von 213

176 Taubheit autosomal-dominant (AD) (CCDC50 [OMIM #611051], CEACAM16 [OMIM #614591], COL4A6 [OMIM #303631], CRYM [OMIM #123740], DIABLO [OMIM #605219], DIAPH3 [OMIM #614567], DSPP [OMIM #125485], EYA4 [OMIM #603550], GJB2 [OMIM #121011], GJB3 [OMIM #603324], GJB6 [OMIM #604418], GRHL2 [OMIM #608576], HOMER2 [OMIM #604799], MIR182 [OMIM #611607], MIR183 [OMIM #611608], MIR96 [OMIM #611606], MYH9 [OMIM #160775], MYO1A [OMIM #601478], MYO6 [OMIM #600970], MYO7A [OMIM #276903], OSBPL2 [OMIM #606731], P2RX2 [OMIM #600844], POU3F4 [OMIM #300039], POU4F3 [OMIM #602460], PRPS1 [OMIM #311850], SIX1 [OMIM #601205], SLC17A8 [OMIM #607557], SMPX [OMIM #300226], TBC1D24 [OMIM #613577], TECTA [OMIM #602574], TJP2 [OMIM #607709], TMC1 [OMIM #606706], TNC [OMIM #187380]) Entfristet am: Seite 174 von 213

177 Taubheit autosomal-rezessiv (AR) (ABHD12[OMIM#613599], ADCY1 [OMIM#103072], BDP1 [OMIM #607012], BSND [OMIM#606412], CABP2 [OMIM#607314], CDC14A [OMIM#603504], CDH23 [OMIM #605516], CIB2 [OMIM#605564], CLDN14 [OMIM#605608], CLIC5 [OMIM#607293], COL11A2 [OMIM #120290], COL4A6 [OMIM#303631], DCDC2 [OMIM#605755], DFNB59 [OMIM#610219], ELMOD3 [OMIM #615427], EPS8 [OMIM#600206], EPS8L2 [OMIM#614988], ESPN [OMIM#606351], ESRRB [OMIM #602167], FAM65B [OMIM#611410], FOXI1 [OMIM#601093], GIPC3 [OMIM#608792], GJB2 [OMIM #121011], GJB3 [OMIM#603324], GJB6 [OMIM#604418], GPSM2 [OMIM#609245], GRXCR1 [OMIM #613283], GRXCR2 [OMIM#615762], HGF [OMIM#142409], ILDR1 [OMIM #609739], KARS [OMIM#601421], KCNE1 [OMIM#176261], KCNQ1 [OMIM#607542], LHFPL5 [OMIM #609427], LOXHD1 [OMIM#613072], LRTOMT [OMIM#612414], MARVELD2 [OMIM#610572], MET [OMIM#164860], MSRB3 [OMIM #613719], MYO15A [OMIM#602666], MYO3A [OMIM#606808], MYO6 [OMIM#600970], MYO7A [OMIM #276903], NARS2 [OMIM#612803], OTOA [OMIM#607038], OTOF [OMIM #603681], OTOG [OMIM#604487], Fortsetzung der Zeile auf der nächsten Seite Entfristet am: Seite 175 von 213

178 OTOGL [OMIM #614925], PCDH15 [OMIM #605514], PNPT1 [OMIM #610316], POU3F4 [OMIM #300039], PRPS1 [OMIM #311850], PTPRQ [OMIM #603317], RDX [OMIM #179410], S1PR2 [OMIM #605111], SERPINB6 [OMIM #173321], SLC26A4 [OMIM #605646], SLC26A5 [OMIM #604943], SLITRK6 [OMIM #609681], SMPX [OMIM #300226], STRC [OMIM #606440], SYNE4 [OMIM #615535], TBC1D24 [OMIM #613577], TECTA [OMIM #602574], TMC1 [OMIM #606706], TMEM132E [OMIM #616178], TMIE [OMIM #607237], TMPRSS3 [OMIM #605511], TPRN [OMIM #613354], TRIOBP [OMIM #609761], TSPEAR [OMIM #612920], USH1C [OMIM #605242], WHRN [OMIM #607928]) Taubheit autosomal-rezessiv (AR) 1 (CDH23 [OMIM #605516], MYO7A [OMIM #276903], PCDH15 [OMIM #605514], SLC26A4 [OMIM #605646]) Taubheit autosomal-rezessiv (AR) 2 (ILDR1 [OMIM #609739], MYO15A [OMIM #602666], OTOA [OMIM #607038], STRC [OMIM #606440], TMC1 [OMIM #606706], TMPRSS3 [OMIM #605511]) Fortsetzung der Zeile von der vorherigen Seite Entfristet am: Seite 176 von 213

179 Taubheit autosomal-rezessiv (AR) (ABHD12[OMIM#613599], ADCY1 [OMIM#103072], BDP1 [OMIM #607012], BSND [OMIM#606412], CABP2 [OMIM#607314], CDC14A [OMIM#603504], CIB2 [OMIM #605564], CLDN14 [OMIM#605608], CLIC5 [OMIM#607293], COL11A2 [OMIM#120290], COL4A6 [OMIM #303631], DCDC2 [OMIM#605755], DFNB59 [OMIM#610219], ELMOD3 [OMIM#615427], EPS8 [OMIM #600206], EPS8L2 [OMIM#614988], ESPN [OMIM#606351], ESRRB [OMIM #602167], FAM65B [OMIM#611410], FOXI1 [OMIM#601093], GIPC3 [OMIM#608792], GJB2 [OMIM #121011], GJB3 [OMIM#603324], GJB6 [OMIM#604418], GPSM2 [OMIM#609245], GRXCR1 [OMIM #613283], GRXCR2 [OMIM#615762], HGF [OMIM#142409], KARS [OMIM #601421], KCNE1 [OMIM#176261], KCNQ1 [OMIM#607542], LHFPL5 [OMIM#609427], LOXHD1 [OMIM #613072], LRTOMT [OMIM#612414], MARVELD2 [OMIM#610572], MET [OMIM#164860], MSRB3 [OMIM #613719], MYO3A [OMIM#606808], MYO6 [OMIM#600970], Fortsetzung der Zeile auf der nächsten Seite Entfristet am: Seite 177 von 213

180 Fortsetzung der Zeile von der vorherigen Seite NARS2 [OMIM#612803], OTOF [OMIM#603681], OTOG [OMIM #604487], OTOGL [OMIM#614925], PNPT1 [OMIM#610316], POU3F4 [OMIM#300039], PRPS1 [OMIM #311850], PTPRQ [OMIM#603317], RDX [OMIM#179410], S1PR2 [OMIM #605111], SERPINB6 [OMIM #173321], SLC26A5 [OMIM#604943], SLITRK6 [OMIM#609681], SMPX [OMIM#300226], SYNE4 [OMIM #615535], TBC1D24 [OMIM#613577], TECTA [OMIM#602574], TMEM132E [OMIM#616178], TMIE [OMIM #607237], TPRN [OMIM#613354], TRIOBP [OMIM#609761], TSPEAR [OMIM#612920], USH1C [OMIM #605242], WHRN [OMIM#607928]) Taubheit syndromal (ADGRV1[OMIM #602851], ATP6V1B1 [OMIM #192132], BSND [OMIM#606412], CDH23 [OMIM#605516], CIB2 [OMIM #605564], CLPP [OMIM#601119], CLRN1 [OMIM#606397], EYA1 [OMIM #601653], FOXI1 [OMIM#601093], GPSM2 [OMIM#609245], HARS [OMIM#142810], KCNE1 [OMIM #176261], KCNJ10 [OMIM#602208], KCNQ1 [OMIM#607542], MYH9 [OMIM#160775], MYO7A [OMIM #276903], PCDH15 [OMIM#605514], PDZD7 [OMIM#612971], SIX5 [OMIM #600963], SLC26A4 [OMIM#605646], USH1C [OMIM#605242], USH1G [OMIM#607696], USH2A [OMIM #608400], WFS1 [OMIM#606201], WHRN [OMIM#607928]) Entfristet am: Seite 178 von 213

181 Taubheit, mitochondrial (MT-ATP6 [OMIM#516060], MT-ATP8 [OMIM #516070], MT-CO2 [OMIM#516040], MT-CO3 [OMIM#516050], MT-COI [OMIM#516030], MT-CYB [OMIM #516020], MT-L2 [OMIM#590055], MT-ND1 [OMIM#516000], MT-ND2 [OMIM#516001], MT-ND3 [OMIM #516002], MT-ND4 [OMIM#516003], MT-ND4L [OMIM#516004], MT-ND5 [OMIM#516005], MT-ND6 [OMIM #516006], MT-RNR1 [OMIM #180450], MT-RNR2 [OMIM #180451], MT-TA [OMIM#590000], MT-TD [OMIM#590015], MT-TE [OMIM#590025], MT-TF [OMIM #590070], MT-TG [OMIM#590035], MT-TH [OMIM#590040], MT-TI [OMIM#590045], MT-TK [OMIM #590060], MT-TL1 [OMIM#590050], MT-TM [OMIM#590065], MT-TN [OMIM#590010], MT-TP [OMIM #590075], MT-TQ [OMIM#590030], MT-TR [OMIM#590005], MT-TS1 [OMIM#590080], MT-TS2 [OMIM #590085], MT-TT [OMIM#590090], MT-TV [OMIM#590105], MT-TV [OMIM#590020], MT-TW [OMIM #590095], MT-TY [OMIM#590100]) Temporallappenepilepsie und Frontallappenepilepsie (CHRNA2 [OMIM#118502], CHRNA4 [OMIM #118504], CHRNB2 [OMIM#118507], CPA6 [OMIM#609562], GAL [OMIM #137035], KCNT1 [OMIM#608167], LGI1 [OMIM#604619], RELN [OMIM #600514]) Entfristet am: Seite 179 von 213

182 Thorakale Aortenerkrankungen familiär, nicht-syndromal (ACTA2 [OMIM#102620], FOXE3 [OMIM #601094], GATA5 [OMIM#611496], LOX [OMIM#153455], MAT2A [OMIM #601468], MFAP5 [OMIM#601103], MYH11 [OMIM#160745], MYLK [OMIM#600922], NOTCH1 [OMIM #190198], PLOD1 [OMIM#153454], PRKG1 [OMIM#176894], SMAD2 [OMIM#601366], SMAD6 [OMIM #602931], TGFBR1 [OMIM#190181], TGFBR2 [OMIM#190182]) Thorakale Aortenerkrankungen, selten, syndromal, rezessiv; Cutis laxa (EFEMP2[OMIM#604633], ELN [OMIM#130160], FBLN5 [OMIM #604580], SLC2A10 [OMIM#606145]) Thorakale Aortenerkrankungen, seltene, syndromal (BGN[OMIM #301870], COL1A1 [OMIM#120150], COL3A1 [OMIM#120180], COL5A1 [OMIM#120215], COL5A2 [OMIM #120190], EMILIN1 [OMIM#130660], FBN1 [OMIM#134797], FLNA [OMIM #300017], PLOD1 [OMIM#153454], SMAD3 [OMIM#603109], TGFB2 [OMIM#190220], TGFB3 [OMIM #190230], TGFBR1 [OMIM#190181], TGFBR2 [OMIM#190182]) Entfristet am: Seite 180 von 213

183 Thorakale Aortenerweiterung mit dem Risiko der Aortendissektion (ACTA2[OMIM#102620], BGN [OMIM #301870], COL1A1 [OMIM#120150], COL3A1 [OMIM#120180], COL4A5 [OMIM#303630], COL5A1 [OMIM #120215], COL5A2 [OMIM#120190], EFEMP2 [OMIM#604633], ELN [OMIM#130160], EMILIN1 [OMIM #130660], FBLN5 [OMIM#604580], FBN1 [OMIM#134797], FBN2 [OMIM #612570], FLNA [OMIM#300017], FOXE3 [OMIM#601094], GATA5 [OMIM#611496], LOX [OMIM #153455], MAT2A [OMIM#601468], MFAP5 [OMIM#601103], MYH11 [OMIM#160745], MYLK [OMIM #600922], NOTCH1 [OMIM#190198], PLOD1 [OMIM#153454], PRKG1 [OMIM#176894], SKI [OMIM #164780], SLC2A10 [OMIM#606145], SMAD2 [OMIM#601366], SMAD3 [OMIM#603109], SMAD4 [OMIM #600993], SMAD6 [OMIM#602931], TGFB2 [OMIM#190220], TGFB3 [OMIM#190230], TGFBR1 [OMIM #190181], TGFBR2 [OMIM#190182]) Thromboseneigung/Thrombophilie (F2 [OMIM #176930], F5 [OMIM #612309], PROC [OMIM #612283], PROS1 [OMIM #176880]) Tuberöse Sklerose Complex (TSC1 [OMIM #605284], TSC2 [OMIM #191092]) Tuberöse Sklerose Complex (TSC1 [OMIM #605284], TSC2 [OMIM #191092]), Gendosisbestimmung Entfristet am: Seite 181 von 213

184 Tubulinopathien / Hirnfehlbildungen (TUBA1A [OMIM #602529], TUBA8 [OMIM #605742], TUBB [OMIM #191130], TUBB2A [OMIM #615101], TUBB2B [OMIM #612850], TUBB3 [OMIM #602661], TUBG1 [OMIM #191135]) Usher-Syndrom (ADGRV1[OMIM #602851], CDH23 [OMIM#605516], CIB2 [OMIM#605564], CLRN1 [OMIM #606397], HARS [OMIM#142810], MYO7A [OMIM#276903], PCDH15 [OMIM#605514], PDZD7 [OMIM #612971], USH1C [OMIM#605242], USH1G [OMIM#607696], USH2A [OMIM#608400], WHRN [OMIM #607928]) Usher-Syndrom Typ 1 (CDH23 [OMIM #605516], MYO7A [OMIM #276903], PCDH15 [OMIM #605514], USH1G [OMIM #607696]) Usher-Syndrom Typ 1 und 2 (MYO7A [OMIM #276903], USH2A [OMIM #608400]) Usher-Syndrom (ADGRV1 [OMIM #602851], CDH23 [OMIM #605516], CIB2 [OMIM #605564], CLRN1 [OMIM #606397], HARS [OMIM #142810], MYO7A [OMIM #276903], PCDH15 [OMIM #605514], PDZD7 [OMIM #612971], USH1C [OMIM #605242], USH1G [OMIM #607696], USH2A [OMIM #608400], WHRN [OMIM #607928]) Entfristet am: Seite 182 von 213

185 Vorzeitige Ovarialinsuffizienz (BMP15 [OMIM #300247], DIAPH2 [OMIM #300108], ESR1 [OMIM #133430], FIGLA [OMIM #608697], FOXL2 [OMIM #605597], FSHR [OMIM #136435], GDF9 [OMIM #601918], INHA [OMIM #147380], LHCGR [OMIM #152790], NOBOX [OMIM #610934], NR5A1 [OMIM #184757], SOHLH1 [OMIM #610224], SOHLH2 [OMIM #616066], STAG3 [OMIM #608489]) X-Gebundene Mentale Retardierung (ACSL4[OMIM#300157], AGTR2 [OMIM#300034], AIFM1 [OMIM #300169], ALG13 [OMIM#300776], AMER1 [OMIM#300647], AP1S2 [OMIM#300629], ARHGEF6 [OMIM #300267], ARHGEF9 [OMIM#300429], ARX [OMIM#300382], ATP6AP2 [OMIM#300556], ATP7A [OMIM #300011], ATRX [OMIM#300032], BCOR [OMIM#300485], BRWD3 [OMIM#300553], CASK [OMIM #300172], CCDC22 [OMIM#300859], CDKL5 [OMIM#300203], CLCN4 [OMIM#302910], CLIC2 [OMIM #300138], CUL4B [OMIM#300304], DCX [OMIM#300121], DDX3X [OMIM #300160], DKC1 [OMIM#300126], DLG3 [OMIM#300189], FGD1 [OMIM #300546], FLNA [OMIM#300017], FTSJ1 [OMIM#300499], GDI1 [OMIM #300104], GK [OMIM#300474], GPC3 [OMIM#300037], GRIA3 [OMIM #305915], HCCS [OMIM#300056], HCFC1 [OMIM#300019], HDAC8 [OMIM#300269], HPRT1 [OMIM #308000], HUWE1 [OMIM#300697], IDS [OMIM#300823], IKBKG [OMIM #300248], IL1RAPL1 [OMIM#300206], Fortsetzung der Zeile auf der nächsten Seite Entfristet am: Seite 183 von 213

186 Fortsetzung der Zeile von der vorherigen Seite IQSEC2 [OMIM#300522], KDM5C [OMIM#314690], KDM6A [OMIM #300128], KIAA2022 [OMIM #300524], L1CAM [OMIM#308840], LAMP2 [OMIM#309060], LAS1L [OMIM#300964], MAOA [OMIM #309850], MBTPS2 [OMIM#300294], MECP2 [OMIM#300005], MED12 [OMIM#300188], MID1 [OMIM #300552], NAA10 [OMIM#300013], NDP [OMIM#300658], NDUFA1 [OMIM#300078], NHS [OMIM #300457], NLGN3 [OMIM#300336], NLGN4X [OMIM#300427], NONO [OMIM#300084], NSDHL [OMIM #300275], OCRL [OMIM#300535], OFD1 [OMIM#300170], OPHN1 [OMIM#300127], OTC [OMIM #300461], PAK3 [OMIM#300142], PCDH19 [OMIM#300460], PDHA1 [OMIM#300502], PGK1 [OMIM #311800], PHF6 [OMIM#300414], PHF8 [OMIM#300560], PIGA [OMIM #311770], PLP1 [OMIM#300401], PORCN [OMIM#300651], PQBP1 [OMIM#300463], PRPS1 [OMIM #311850], PTCHD1 [OMIM#300828], RAB39B [OMIM#300774], RBM10 [OMIM#300080], RPS6KA3 [OMIM #300075], SLC16A2 [OMIM#300095], SLC6A8 [OMIM#300036], SLC9A6 [OMIM #300231], SMC1A [OMIM#300040], SMS [OMIM#300105], SYN1 [OMIM #313440], SYP [OMIM#313475], TAF1 [OMIM#313650], THOC2 [OMIM #300395], TIMM8A [OMIM#300356], TSPAN7 [OMIM#300096], UBE2A [OMIM#312180], UPF3B [OMIM #300298], USP9X [OMIM#300072], WDR45 [OMIM#300526], ZDHHC15 [OMIM#300576], ZDHHC9 [OMIM #300646], ZNF711 [OMIM#314990], ZNF81 [OMIM#314998]) Entfristet am: Seite 184 von 213

187 Ziliopathie (ACVR2B[OMIM#602730], AHI1 [OMIM#608894], ALMS1 [OMIM #606844], ANKS6 [OMIM#615370], ARL13B [OMIM#608922], ARL6 [OMIM#608845], ARMC4 [OMIM #615408], ATXN10 [OMIM#611150], B9D1 [OMIM#614144], B9D2 [OMIM #611951], BBIP1 [OMIM#613605], BBS1 [OMIM#209901], BBS10 [OMIM #610148], BBS12 [OMIM#610683], BBS2 [OMIM#606151], BBS4 [OMIM #600374], BBS5 [OMIM#603650], BBS7 [OMIM#607590], BBS9 [OMIM #607968], BICC1 [OMIM#614295], BMP4 [OMIM#112262], C21orf59 [OMIM#615494], C2CD3 [OMIM #615944], C5orf42 [OMIM#614571], CC2D2A [OMIM#612013], CCDC103 [OMIM#614677], CCDC114 [OMIM #615038], CCDC151 [OMIM#615956], CCDC28B [OMIM#610162], CCDC39 [OMIM#613798], CCDC40 [OMIM #613799], CCDC65 [OMIM#611088], CCNO [OMIM#607752], CENPF [OMIM#600236], CEP104 [OMIM #616690], CEP120 [OMIM#613446], CEP164 [OMIM#614848], CEP290 [OMIM#610142], CEP41 [OMIM#610523], CEP83 [OMIM #615847], CFAP53 [OMIM#614759], CFC1 [OMIM#605194], CHD1L [OMIM #613039], CRELD1 [OMIM#607170], CSPP1 [OMIM#611654], DCDC2 [OMIM#605755], DDX59 [OMIM #615464], DNAAF1 [OMIM#613190], DNAAF2 [OMIM#612517], DNAAF3 [OMIM#614566], DNAAF5 [OMIM #614864], DNAH1 [OMIM#603332], DNAH11 [OMIM#603339], DNAH5 [OMIM#603335], DNAH8 [OMIM #603337], DNAI1 [OMIM#604366], DNAI2 [OMIM#605483], DNAJB13 [OMIM#610263], DNAL1 [OMIM #610062], DRC1 [OMIM#615288], Fortsetzung der Zeile auf der nächsten Seite Entfristet am: Seite 185 von 213

188 Fortsetzung der Zeile von der vorherigen Seite DYNC2H1 [OMIM#603297], DYNC2LI1 [OMIM#617083], DYX1C1 [OMIM #608706], EVC [OMIM#604831], EVC2 [OMIM#607261], EXOC8 [OMIM#615283], FRAS1 [OMIM #607830], GAS8 [OMIM#605178], GDF1 [OMIM#602880], GLIS2 [OMIM #608539], HNF1B [OMIM#189907], HYDIN [OMIM#610812], HYLS1 [OMIM#610693], IFT122 [OMIM #606045], IFT140 [OMIM#614620], IFT172 [OMIM#607386], IFT27 [OMIM#615870], IFT43 [OMIM #614068], IFT52 [OMIM#617094], IFT74 [OMIM#608040], IFT80 [OMIM #611177], INPP5E [OMIM#613037], INVS [OMIM#243305], IQCB1 [OMIM #609237], KIAA0556 [OMIM#616650], KIAA0586 [OMIM#610178], KIAA0753 [OMIM #617112], KIF14 [OMIM#611279], KIF7 [OMIM#611254], LEFTY2 [OMIM #601877], LRRC6 [OMIM#614930], LZTFL1 [OMIM#606568], MAPKBP1 [OMIM#616786], MCIDAS [OMIM #614086], MKKS [OMIM#604896], MKS1 [OMIM#609883], MMP21 [OMIM#608416], MUC1 [OMIM #158340], NEK1 [OMIM#604588], NEK8 [OMIM#609799], NME8 [OMIM #607421], NODAL [OMIM#601265], NPHP1 [OMIM#607100], NPHP3 [OMIM#608002], NPHP4 [OMIM #607215], OFD1 [OMIM#300170], PAX2 [OMIM#167409], PDE6D [OMIM#602676], PKD1 [OMIM #601313], PKD1L1 [OMIM#609721], PKD2 [OMIM#173910], PKHD1 [OMIM#606702], Fortsetzung der Zeile auf der nächsten Seite Entfristet am: Seite 186 von 213

189 Fortsetzung der Zeile von der vorherigen Seite POC1B [OMIM#614784], ROBO2 [OMIM#602431], RPGR [OMIM #312610], RPGRIP1 [OMIM#605446], RPGRIP1L [OMIM#610937], RSPH1 [OMIM#609314], RSPH3 [OMIM #615876], RSPH4A [OMIM#612647], RSPH9 [OMIM#612648], SDCCAG8 [OMIM#613524], SIX2 [OMIM #604994], SLC41A1 [OMIM#610801], SPAG1 [OMIM#603395], TCTN1 [OMIM#609863], TCTN2 [OMIM #613846], TCTN3 [OMIM#613847], TMEM138 [OMIM#614459], TMEM216 [OMIM#613277], TMEM231 [OMIM#614949], TMEM237 [OMIM#614423], TMEM67 [OMIM#609884], TRAF3IP1 [OMIM #607380], TRIM32 [OMIM#602290], TTC21B [OMIM#612014], TTC25 [OMIM#617095], TTC8 [OMIM #608132], UMOD [OMIM#191845], WDPCP [OMIM#613580], WDR19 [OMIM#608151], WDR34 [OMIM #613363], WDR35 [OMIM#613602], WDR60 [OMIM#615462], XPNPEP3 [OMIM#613553], ZIC3 [OMIM #300265], ZMYND10 [OMIM #607070], ZNF423 [OMIM#604557]) Einzelgensequenzierung ABL1 (OMIM # ) ANKRD26 (OMIM #610855) APC (OMIM #611731) EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, RNA aus Blut und System Thermofisher) Knochenmark (cdna wird analysiert) EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus FFPE-Gewebe, System Thermofisher) DNA aus Blut, Knochenmark und Tumorgewebe Entfristet am: Seite 187 von 213

190 ASXL1 (OMIM #612990) ATM (OMIM #607585) EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark BAP1 (OMIM#603089), NGS (semiconductor sequencing, Ion PGM- System Thermofisher) BCOR (OMIM #300485) BCORL1 (OMIM #300688) BIRC3 (OMIM #601721) BMPR1A (OMIM #601299) EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark BPGM (OMIM#613896), NGS (semiconductor sequencing, Ion PGM- System Thermofisher) BRAF (OMIM #164757) BRCA1 (OMIM #113705) EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus FFPE-Gewebe, System Thermofisher) BCT-Blut, DNA aus Blut, Knochenmark und Tumorgewebe EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus FFPE-Gewebe, System Thermofisher) DNA aus Blut, Knochenmark und Tumorgewebe Entfristet am: Seite 188 von 213

191 BRCA2 (OMIM #600185) BTK (OMIM #300300) CALR (OMIM #109091) CBL (OMIM #165360) CDH1 (OMIM #192090) CDK4 (OMIM #123829) CDKN1B (OMIM #600778) CDKN2A (OMIM #600160) CEBPa (OMIM #116897) CHEK2 (OMIM # ) EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus FFPE-Gewebe, System Thermofisher) DNA aus Blut, Knochenmark und Tumorgewebe EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark Entfristet am: Seite 189 von 213

192 CSF3R (OMIM # ) EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark CTNNB1 (OMIM#116806) DNA aus FFPE-Gewebe, NGS (semiconductor sequencing, Ion PGM- System Thermofisher) CUX1 (OMIM #116896) CXCR4 (OMIM #162643) DDX41 (OMIM #608170) DNMT3A (OMIM #602769) EGFR (OMIM #131550) EGLN1 (OMIM #606425) ELANE (OMIM #130130) EPOR (OMIM #133171) EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark BCT-Blut, DNA aus FFPE-Gewebe und Blut, NGS (semiconductor sequencing, Ion PGM- System Thermofisher) EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark ERBB2 (OMIM#164870) DNA aus FFPE-Gewebe, NGS (semiconductor sequencing, Ion PGM- System Thermofisher) Entfristet am: Seite 190 von 213

193 ETNK1 (OMIM # ) ETV6 (OMIM #600618) EZH2 (OMIM #601573) FBXW7 (OMIM #606278) EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark FGFR3 (OMIM#134934) DNA aus FFPE-Gewebe, NGS (semiconductor sequencing, Ion PGM- System Thermofisher) GATA1 (OMIM #305371) GATA2 (OMIM #137295) EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark GNAQ (OMIM#600998) DNA aus FFPE-Gewebe, NGS (semiconductor sequencing, Ion PGM- System Thermofisher) GNAS (OMIM#139320) EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus FFPE-Gewebe, System Thermofisher) DNA aus Blut, Knochenmark und Tumorgewebe H3F3A (OMIM#601128) DNA aus FFPE-Gewebe, NGS (semiconductor sequencing, Ion PGM- System Thermofisher) HBA2 (OMIM#141850), NGS (semiconductor sequencing, Ion PGM- System Thermofisher) Entfristet am: Seite 191 von 213

194 HBB (OMIM#141900), NGS (semiconductor sequencing, Ion PGM- System Thermofisher) HRAS (OMIM #190020) IDH1 (OMIM #147700) IDH2 (OMIM #147650) IKZF1 (OMIM #603023) JAK2 (OMIM #147796) JAK3 (OMIM #600173) KDM6A (OMIM #300128) KIT (OMIM #164920) EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus FFPE-Gewebe, System Thermofisher) DNA aus Blut, Knochenmark und Tumorgewebe EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus FFPE-Gewebe, System Thermofisher) DNA aus Blut, Knochenmark und Tumorgewebe EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus FFPE-Gewebe, System Thermofisher) DNA aus Blut, Knochenmark und Tumorgewebe EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus FFPE-Gewebe, System Thermofisher) DNA aus Blut, Knochenmark und Tumorgewebe Entfristet am: Seite 192 von 213

195 KLF2 (OMIM #602016) KRAS (OMIM #190070) MAX (OMIM #154950) MEN1 (OMIM #613733) EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus FFPE-Gewebe, System Thermofisher) BCT-Blut, DNA aus Blut, Knochenmark und Tumorgewebe EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark MET (OMIM#164860) EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus FFPE-Gewebe, System Thermofisher) DNA aus Blut, Knochenmark und Tumorgewebe MGMT (OMIM#156569) DNA aus FFPE-Gewebe, NGS (semiconductor sequencing, Ion PGM- System Thermofisher) MLH1 (OMIM #120436) MPL (OMIM #159530) MSH2 (OMIM #609309) MSH6 (OMIM #600678) EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark Entfristet am: Seite 193 von 213

196 MUTYH (OMIM #604933) MYD88 (OMIM #602170) NBN (OMIM #602667) NOTCH1 (OMIM #190198) NPM1 (OMIM #164040) NRAS (OMIM #164790) PALB2 (OMIM #610355) EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus FFPE-Gewebe, System Thermofisher) BCT-Blut, DNA aus Blut, Knochenmark und Tumorgewebe EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark PDGFRa (OMIM#173490) DNA aus FFPE-Gewebe, NGS (semiconductor sequencing, Ion PGM- System Thermofisher) PHF6 (OMIM #300414) EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark PIK3CA (OMIM#171834) DNA aus FFPE-Gewebe, NGS (semiconductor sequencing, Ion PGM- System Thermofisher) PLCG2 (OMIM #600220) EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark Entfristet am: Seite 194 von 213

197 PMS1 (OMIM #600258) PMS2 (OMIM #600259) EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark POLE (OMIM#174762) DNA aus FFPE-Gewebe, NGS (semiconductor sequencing, Ion PGM- System Thermofisher) PRPF8 (OMIM #607300) PTEN (OMIM #601728) PTPN11 (OMIM #176876) RAD21 (OMIM #606462) RAD51C (OMIM #602774) RAD51D (OMIM #602954) RB1 (OMIM #180200) EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark Entfristet am: Seite 195 von 213

198 RET (OMIM #164761) RUNX1 (OMIM #151385) SDHAF2 (OMIM #613019) SDHB (OMIM #185470) SDHC (OMIM #602413) SDHD (OMIM #602413) SETBP1 (OMIM #269150) SF3B1 (OMIM #605590) SH2B3 (OMIM #605093) SMAD4 (OMIM #600993) EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus FFPE-Gewebe, System Thermofisher) DNA aus Blut, Knochenmark und Tumorgewebe EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark Entfristet am: Seite 196 von 213

199 SMC3 (OMIM #606062) SRSF2 (OMIM #600813) STAG2 (OMIM #300826) STAT3 (OMIM #608489) STK11 (OMIM #602216) EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark TERT (OMIM#187270) DNA aus FFPE-Gewebe, NGS (semiconductor sequencing, Ion PGM- System Thermofisher) TET2 (OMIM #612839) THPO (OMIM #600044) TP53 (OMIM #191170) U2AF1 (OMIM #191317) EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus FFPE-Gewebe, System Thermofisher) DNA aus Blut, Knochenmark und Tumorgewebe EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark Entfristet am: Seite 197 von 213

200 UBR5 (OMIM #608413) VHL (OMIM #193300) WT1 (OMIM #194070) XPO1 (OMIM #602559) ZEB2 (OMIM #605802) ZRSR2 (OMIM #300028) EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark EDTA-Blut, EDTA-Knochenmark,, NGS Lithium-Heparin-Blut, Lithium-Heparin-(semiconductor sequencing, Ion PGM- Knochenmark, DNA aus Blut und System Thermofisher) Knochenmark Untersuchungsart: Molekularbiologische Untersuchungen (Amplifikationsverfahren)** Aneuploidiediagnostik Aneuploidiediagnostik (nicht invasiver Pränataltest): Trisomie 21, Trisomie, 18, Trisomie 13, gonosomale Aberrationen Genomische Imbalancen Chimärismusanalyse Mikrosatelliteninstabilität Genomische DNA aus Einzelzellen, Polkörpern BCT-Blut (Streck), zellfreie (fetale&maternale) DNA aus Blut WGA, Array basierte CGH Gesamtgenomsequenzierung (Illumina, TruseqNano) Sequencing-bysynthesis (Illumina) EDTA-Blut, Genomische DNA aus Blut Hybridisierungssonden (Real-time PCR) EDTA-Blut, EDTA-Knochenmark, Fluoreszenz-markierte Lithium-Heparin-Blut, Lithium-Heparin-Hybridisierungssonden Knochenmark, DNA aus Blut und (ddpcr), Fragmentlängenanalyse Knochenmark DNA aus FFPE-Gewebe, DNA aus Tumorgewebe Fragmentlängenanalyse Entfristet am: Seite 198 von 213

201 AML-ETO Fusionsgen BCR-ABL Fusionsgen BRAF c.1799t>a CBFB-MYH11 Fusionsgen E2A-PBX Fusionsgen EGFR c.2573t>g, c.2369c>t, c.2235_2249del15 ETV6-RUNX1 Fusionsgen IDH1 c.395g>a JAK 2 c.1849g>t KIT c.2447a>t EDTA-Blut, EDTA-Knochenmark, Fluoreszenz-markierte Lithium-Heparin-Blut, Lithium-Heparin-Hybridisierungssonden Knochenmark, RNA aus Blut und (ddpcr) Knochenmark, cdna EDTA-Blut, EDTA-Knochenmark, Fluoreszenz-markierte Lithium-Heparin-Blut, Lithium-Heparin-Hybridisierungssonden Knochenmark, RNA aus Blut und (ddpcr) Knochenmark, cdna EDTA-Blut, EDTA-Knochenmark, Fluoreszenz-markierte Lithium-Heparin-Blut, Lithium-Heparin-Hybridisierungssonden Knochenmark, DNA aus FFPE-Gewebe, (ddpcr) BCT-Blut, DNA aus Blut, Knochenmark und Tumorgewebe EDTA-Blut, EDTA-Knochenmark, Fluoreszenz-markierte Lithium-Heparin-Blut, Lithium-Heparin-Hybridisierungssonden Knochenmark, RNA aus Blut und (ddpcr) Knochenmark, cdna EDTA-Blut, EDTA-Knochenmark, Fluoreszenz-markierte Lithium-Heparin-Blut, Lithium-Heparin-Hybridisierungssonden Knochenmark, RNA aus Blut und (ddpcr) Knochenmark, cdna DNA aus FFPE-Gewebe, BCT-Blut, DNA aus Tumorgewebe und Blut Fluoreszenz-markierte Hybridisierungssonden (ddpcr) EDTA-Blut, EDTA-Knochenmark, Fluoreszenz-markierte Lithium-Heparin-Blut, Lithium-Heparin-Hybridisierungssonden Knochenmark, RNA aus Blut und (ddpcr) Knochenmark, cdna EDTA-Blut, EDTA-Knochenmark, Fluoreszenz-markierte Lithium-Heparin-Blut, Lithium-Heparin-Hybridisierungssonden Knochenmark, DNA aus FFPE-Gewebe, (ddpcr) DNA aus Blut, Knochenmark und Tumorgewebe EDTA-Blut, EDTA-Knochenmark, Fluoreszenz-markierte Lithium-Heparin-Blut, Lithium-Heparin-Hybridisierungssonden Knochenmark, DNA aus Blut und (ddpcr) Knochenmark EDTA-Blut, EDTA-Knochenmark, Fluoreszenz-markierte Lithium-Heparin-Blut, Lithium-Heparin-Hybridisierungssonden Knochenmark, DNA aus Blut und (ddpcr) Knochenmark Entfristet am: Seite 199 von 213

202 KRAS c.35g>t, c.35g>c, c.34g>t, c.35g>a, c.34g>c, c.34g>a, c.38g>a, c.183a>c, c.182a>g MLL-AF4 Fusionsgen MPL c.1544g>t MYD88 c.794t>c PML-RARa Fusionsgen PIK3CA c.1634a>c SIL-TAL Fusionsgen TP53 c.473g>a MLH1-Promotormethylierung EDTA-Blut, EDTA-Knochenmark, Fluoreszenz-markierte Lithium-Heparin-Blut, Lithium-Heparin-Hybridisierungssonden Knochenmark, DNA aus FFPE-Gewebe, (ddpcr) BCT-Blut, DNA aus Blut, Knochenmark und Tumorgewebe EDTA-Blut, EDTA-Knochenmark, Fluoreszenz-markierte Lithium-Heparin-Blut, Lithium-Heparin-Hybridisierungssonden Knochenmark, RNA aus Blut und (ddpcr) Knochenmark, cdna EDTA-Blut, EDTA-Knochenmark, Fluoreszenz-markierte Lithium-Heparin-Blut, Lithium-Heparin-Hybridisierungssonden Knochenmark, DNA aus Blut und (ddpcr) Knochenmark EDTA-Blut, EDTA-Knochenmark, Fluoreszenz-markierte Lithium-Heparin-Blut, Lithium-Heparin-Hybridisierungssonden Knochenmark, DNA aus Blut und (ddpcr) Knochenmark EDTA-Blut, EDTA-Knochenmark, Fluoreszenz-markierte Lithium-Heparin-Blut, Lithium-Heparin-Hybridisierungssonden Knochenmark, RNA aus Blut und (ddpcr) Knochenmark, cdna DNA aus FFPE-Gewebe, DNA aus Tumorgewebe Fluoreszenz-markierte Hybridisierungssonden (ddpcr) EDTA-Blut, EDTA-Knochenmark, Fluoreszenz-markierte Lithium-Heparin-Blut, Lithium-Heparin-Hybridisierungssonden Knochenmark, RNA aus Blut und (ddpcr) Knochenmark, cdna EDTA-Blut, EDTA-Knochenmark, Fluoreszenz-markierte Lithium-Heparin-Blut, Lithium-Heparin-Hybridisierungssonden Knochenmark, DNA aus Blut und (ddpcr) Knochenmark DNA aus FFPE-Gewebe, DNA aus Tumorgewebe NGS (semiconductor sequencing, Ion PGM-System Thermofisher) Entfristet am: Seite 200 von 213

203 Untersuchungsart: Molekularbiologische Untersuchungen (Hybridisierungsverfahren)** Achondrogenesie (COL2A1-Gen) MLPA Adrenogenitales Syndrom, AGS (CYP21A2-Gen) MLPA Alagille-Syndrom (xg1-gen) MLPA Alpha-Thalassämie (HBA1-, HBA2- Gen) Alpha-Thalassämie-X-chromosomale Intelligenzminderung-Syndrom (ATRX-Gen) Alport-Syndrom (COL4A3-, COL4A4-, COL4A5-, MYH9-Gen) Androgeninsensitivität, AIS (AR-Gen) Angeborene Herzfehler (GATA4-, NKX2-5-, TBX5-, BMP4-, CRELD1-Gen) Aortendissektion, familiär thorakaler Typ 3, AAT3 (TGFBR2-Gen) Aortendissektion, familiär thorakaler Typ 5, AAT5 (TGFBR1-Gen) MLPA MLPA MLPA MLPA MLPA MLPA MLPA APC (OMIM #611731) MLPA Arrhythmogene rechtsventrikuläre Dysplasie, ARVD (DSP-, JUP-, DSC2-, DSG2-, PKP2-, RYR2-, TGFB3-Gen) MLPA ATM (OMIM #607585) MLPA Autismus (SHANK3-Gen) MLPA Bannayan-Riley-Ruvalcaba-Syndrom (PTEN-Gen) Basalzellnävus-Syndrom (PTCH1-Gen) MLPA MLPA Beta-Thalassämie (HBB-Gen) MLPA BMPR1A (OMIM #601299) MLPA Branchio-oto-renales Syndrom Typ 1 (EYA1-Gen) MLPA BRCA1 (OMIM #113705) MLPA BRCA2 (OMIM #600185) MLPA Brugada-Syndrom (SCN5A-Gen) MLPA Brustkrebs, familiär (BRCA1-, BRCA2-, CHEK2-, PALB2-, RAD51C-Gen) MLPA CDH1 (OMIM #192090) MLPA Entfristet am: Seite 201 von 213

204 Charcot-Marie-Tooth Neuropathie Typ 1 (PMP22-Gen) Charcot-Marie-Tooth Neuropathie Typ 1B, 2J, 2I (MPZ-Gen) Charcot-Marie-Tooth Neuropathie Typ 2A2A (MFN2-Gen) MLPA MLPA MLPA CHARGE-Syndrom (CHD7-Gen) MLPA CHEK2 (OMIM # ) MLPA Chorea, hereditäre benigne (NKX2-1- Gen) Congenitale bilaterale Aplasie des Vas deferens - CBAVD (CFTR-Gen) Cornelia-de-Lange-Syndrom (NIPBL- Gen) MLPA MLPA MLPA Cystische Fibrose (CFTR-Gen) MLPA Dihydropyrimidin-Dehydrogenase- Defizienz (DPYD-Gen) Ehlers-Danlos-Syndrom (EDS) mit Tenascin-X-Defizienz, TNXB-Gen Ehlers-Danlos-Syndrom hypermobiler Typ ( EDS Typ III), TNXB-Gen Ehlers-Danlos-Syndrom klassischer Typ (EDS Typ I/II), COL5A1-Gen Ehlers-Danlos-Syndrom kyphoskoliotischer Typ (EDS Typ VIA), PLOD1-Gen Ehlers-Danlos-Syndrom vaskulärer Typ (EDS Typ IV), COL3A1-Gen Epilepsie, frühkindliche Grand mal, Dravet-Syndrom (SCN1A-Gen) Epilepsie, frühkindliche X-gebundene mit geistiger Behinderung (PCDH19- Gen) Episodische Ataxie Typ 1 (KCNA1-Gen) Episodische Ataxie Typ 2, EA2 (CACNA1A-Gen) Familiäre Hemiplegische Migräne, FHM (CACNA1A-, ATP1A2-Gen) MLPA MLPA MLPA MLPA MLPA MLPA MLPA MLPA MLPA MLPA MLPA Fechtner-Syndrom (MYH9-Gen) MLPA Entfristet am: Seite 202 von 213

205 Fragiles X-Syndrom (FMR1-Gen) Southern-Blot-Hybridisierung Fragiles X-Tremor-Ataxie-Syndrom, FXTAS (FMR1-Gen) Fragiles-X assoziierte prämature Ovarialinsuffizienz, FXPOI (FMR1-Gen) Fructoseintoleranz (ALDOB-, FBP1- Gen) Southern-Blot-Hybridisierung Southern-Blot-Hybridisierung MLPA Galaktosämie (GALT-Gen) MLPA Gitelman-Syndrom (SLC12A3-Gen) MLPA Glukosetransporter Typ 1-Defizienz- Syndrom, GLUT1-DS (SLC2A1-Gen) Hämochromatose (HFE-, SLC40A1-, TFR2-, HFE2-, HAMP-Gen) MLPA MLPA Hämophilie A (F8-Gen) MLPA Hämophilie B (F9-Gen) MLPA Hereditäre Neuropathie mit Neigung zu Drucklähmungen, HNPP (PMP22- Gen) Heterotaxie (ZIC3-, ACVR2B-, NODAL- Gen) Hirn-Lunge-Schilddrüse-Syndrom (NKX2-1-Gen) MLPA MLPA MLPA Hörverlust (GJB3-Gen) MLPA Hörverlust, autosomal-rezessiv, nichtsyndromal (GJB2-, GJB6-Gen) Hypercholesterinämie, familiär (LDLR- Gen) Hyperoxalurie, primäre (AGXT-, GRHPR-Gen) Hypochondrogenesie (COL2A1-Gen) Hypokaliämische Periodische Paralyse, HypoPP (CACNA1S-, SCN4A- Gen) Kabuki-Syndrom (KMT2D-, KDM6A- Gen) Kallmann-Syndrom (FGFR1-, GNRHR-, KISS1R-, GNRH1-, NELF-, PROK2-, PROKR2-Gen) MLPA MLPA MLPA MLPA MLPA MLPA MLPA Entfristet am: Seite 203 von 213

206 Kolonkarzinom, familiär, nichtpolypös, HNPCC (MLH1-, MSH2-, MSH6-, PMS2-Gen) Kongenitale alveolar-kapilläre Dysplasie, ACDMPV (FOXF1-Gen) Kongenitale Fehlbildungen der Nieren und ableitenden Harnwege, CAKUT (HNF1B-Gen) MLPA MLPA MLPA Legius-Syndrom (SPRED1-Gen) MLPA Leri-Weill-Dyschondrosteose (LWD), Langer mesomele Dysplasie (LMD); (SHOX-Gen) Loeys-Dietz-Syndrom Typ 1A und 2A (TGFBR1-Gen) Loeys-Dietz-Syndrom Typ 1B und 2B (TGFBR2-Gen) MLPA MLPA MLPA LPL-Defizienz (LPL-Gen) MLPA LQT-Syndrom Typ 1 (KCNQ1-Gen) MLPA LQT-Syndrom Typ 2 (KCNH2-Gen) MLPA LQT-Syndrom Typ 5 (KCNE1-Gen) MLPA LQT-Syndrom Typ 6 (KCNE2-Gen) MLPA Makrozephalie (SHANK3-Gen) MLPA Maligne Hyperthermie (RYR1-, CACNA1S-Gen) Marfan-Syndrom (FBN1-, TGFBR1-, TGFBR2-Gen) Marfan-Syndrom Typ II / Marfanähnliches Syndrom / Loeys-Dietz- Syndrom, (TGFBR1-, TGFBR2-Gen) Marschall-Syndrom (COL11A1-Gen) MLPA MLPA MLPA MLPA MAX (OMIM #154950) MLPA MECP2-Duplikationsyndrom (MECP2- Gen) MLPA MEN1 (OMIM #613733) MLPA Mikrozephalie (MCPH1-, ASPM-, CDK5RAP2-, CENPJ-, STIL-Gen) MLPA MLH1 (OMIM #120436) MLPA Entfristet am: Seite 204 von 213

207 MODY-Diabetes Typ 1 (HNF4A-Gen) MLPA MODY-Diabetes Typ 2 (GCK-Gen) MLPA MODY-Diabetes Typ 3 (HNF1A-Gen) MLPA MODY-Diabetes Typ 4 (PDX1-Gen) MLPA MODY-Diabetes Typ 5 (HNF1B-Gen) MODY-Diabetes Typ 6 (NEUROD1- Gen) MLPA MLPA MODY-Diabetes Typ 7 (KLF11-Gen) MLPA MODY-Diabetes Typ 8 (CEL-Gen) MLPA MODY-Diabetes Typ 9 (PAX4-Gen) MLPA MODY-Diabetes Typ 10 (INS-Gen) MLPA Morbus Fabry (GLA-Gen) MLPA Morbus Pompe (GAA-Gen) MLPA Mowat-Wilson-Syndrom (ZEB2-Gen) MLPA MSH2 (OMIM #609309) MLPA MSH6 (OMIM #600678) MLPA Multiple endokrine Neoplasien (MEN1- Gen) Muskeldystrophie Duchenne / Becker (DMD-Gen) Myotone Dystrophie Typ1, DM1 (DMPK-Gen) MLPA MLPA Nephronophthise (NPHP1-Gen) MLPA Nephrotisches Syndrom Typ 4 (WT1- Gen) Southern-Blot-Hybridisierung MLPA Neurofibromatose Typ 1 (NF1-Gen) MLPA Nicht-dystrophische Myotonie (SCN4A- Gen) Nierenzysten und Diabetes, RCAD (HNF1B-Gen) MLPA MLPA Ohtahara-Syndrom (STXBP1-Gen) MLPA Ornithin-Transcarbamylase(OTC)- Mangel (OTC-Gen) Osteogenesis imperfecta (COL1A1-, COL1A2-Gen) MLPA MLPA PALB2 (OMIM #610355) MLPA Pankreatitis (PRSS1, SPINK1-Gen) MLPA Pendred-Syndrom (SLC26A4-Gen) MLPA Peutz-Jeghers-Syndrom (STK11-Gen) MLPA Entfristet am: Seite 205 von 213

208 Phäochromozytom/Paragangliom (SDHAF2-, SDHB-, SDHC-, SDHD-, SDHA-, MAX-Gen) MLPA Phenylketonurie (PAH-Gen) MLPA Pitt-Hopkins-Syndrom (TCF4-Gen) MLPA PMS2 (OMIM #600259) MLPA Polyposis coli, familiäre adenomatöse, FAP (APC-Gen) Polyposis coli, juvenile, JPS (BMPR1A-, SMAD4-Gen) Polyzystische Nierenerkrankung, autosomal dominant, ADPKD (PKD1-, PKD2-Gen) Polyzystische Nierenerkrankung, autosomal rezessiv, ARPKD (PKHD1- Gen) Porphyrie, akut (ALAD-, CPOX-, HMBS-, PPOX-Gen) Porphyrie, nicht akut (ALAS2-, FECH-, UROD-, UROS-Gen) Primäre Hyperoxalurie (AGXT-, GRHPR- Gen) Primäre ziliäre Dyskinesie (DNAI1- Gen) MLPA MLPA MLPA MLPA MLPA MLPA MLPA MLPA Propionazidämie (PCCA-Gen) MLPA Protein-S-Mangel (PROS1-Gen) MLPA Pseudoxanthoma Elasticum (ABCC6- Gen) Pulmonale arterielle Hypertonie (ENG-, ACVRL1-, BMPR2-Gen) MLPA MLPA RAD51C (OMIM #602774) MLPA RAD51D (OMIM #602954) MLPA RB1 (OMIM #180200) MLPA Rett-Syndrom (MECP2-Gen) MLPA Rett-Syndrom ähnliche Erkrankungen (SHANK3-Gen) Rett-Syndrom, atypisches (CDKL5-, NTNG1-, ARX-, FOXG1-Gen) Rubinstein-Taybi-Syndrom (CREBBP-, EP300-Gen) MLPA MLPA MLPA Entfristet am: Seite 206 von 213

209 Saethre-Chotzen-Syndrom (TWIST1- Gen) MLPA SDHA (OMIM #600857) MLPA SDHAF2 (OMIM #613019) MLPA SDHB (OMIM #185470) MLPA SDHC (OMIM #602413) MLPA SDHD (OMIM #602413) MLPA SMAD4 (OMIM #600993) MLPA Smith-Lemli-Opitz-Syndrom (DHCR7- Gen) MLPA Sotos-Syndrom (NSD1-Gen) MLPA Spinale Muskelatrophie, SMA (SMN1, SMN2-Gen) Spondyloepiphysäre Dysplasie (COL2A1-Gen) Sprachentwicklungsstörung (SHANK3- Gen) Stickler-Syndrom (COL2A1-, COL11A1- Gen) MLPA MLPA MLPA MLPA STK11 (OMIM #602216) MLPA Taubheit, autosomal-dominant 17 (MYH9-Gen) Taubheit, autosomal-dominant 3A (GJB2-Gen) Taubheit, autosomal-dominant 3B (GJB6-Gen) Taubheit, autosomal-dominant 6/14/38 (WFS1-Gen) Taubheit, autosomal-rezessiv (STRC-, OTOA-Gen) Taubheit, autosomal-rezessiv 1A (GJB2-Gen) Taubheit, autosomal-rezessiv 1B (GJB6-Gen) Taubheit, X-chromosomal 2 (POU3F4- Gen) MLPA MLPA MLPA MLPA MLPA MLPA MLPA MLPA TP53 (OMIM #191170) MLPA TSC2/PKD1-Contiguous-Gene- Syndrom (TSC2-, PKD1-Gen) MLPA Entfristet am: Seite 207 von 213

210 Tuberöse Sklerose (TSC1-, TSC2-Gen) Usher-Syndrom (PCDH15-, USH2A- Gen) MLPA MLPA VHL (OMIM #193300) MLPA Von-Hippel-Lindau-Syndrom (VHL- Gen) MLPA Wolfram-Syndrom (WFS1-Gen) MLPA X-gekoppelte Agammaglobulinämie Typ Bruton, XLA (BTK-Gen) MLPA Entfristet am: Seite 208 von 213

211 Untersuchungsgebiet: Mikrobiologie Untersuchungsart: Agglutinationsteste* Analyt (Messgröße) Streptokokken (Lancefield-Antigen) Staphylokokken (Koagulase, clumping factor, Protein A, Polysaccharide) Staphylococcus aureus, MRSA (PBP 2) Bakterienkultur Bakterienkultur Bakterienkultur Partikelagglutination Partikelagglutination Partikelagglutination Untersuchungsart: Empfindlichkeitstestungen von Bakterien, Parasiten, Pilzen* Analyt (Messgröße) Bakterien Keimkolonien in Reinkultur Agardiffusionstest, partielles Buillondilutionsverfahren als minimale Hemmkonzentration (MHK) mit Extrapolation Untersuchungsart: Keimdifferenzierung/-identifizierung/-typisierung* Analyt (Messgröße) Bakterien Bakterienkultur biochemisch, orientierend (Katalase, Oxidase, Nitrocefin (Beta- Lactamase)) Pneumokokken Bakterienkultur biochemisch, orientierend (Optochin) Staphylococcus saprophyticus Bakterienkultur biochemisch, orientierend (Novobiocin) gram-positive aerobe Bakterien Bakterienisolat biochemisch, aufwendig gram-negative aerobe Bakterien Bakterienisolat biochemisch, aufwendig Neisseria sp., Haemophilus sp. Bakterienisolat biochemisch, aufwendig Anaerobier, Corynebakterien Bakterienisolat biochemisch, aufwendig Hefen Pilzisolat biochemisch, aufwendig Entfristet am: Seite 209 von 213

212 Untersuchungsart: Kulturelle Untersuchungen* Analyt (Messgröße) Bakterien, Pilze Abstrich (urogenital, HNO), Blut in CO2-Atmosphäre, mikroaerobe/anaerobe Atmosphäre, spezifisch, unspezifisch Bakterien, Pilze Urin spezifisch, unspezifisch, Hemmstoffnachweistest, Keimzahlbestimmung Untersuchungsart: Ligandenassays* Analyt (Messgröße) Borrelia, IgG, IgM Serum ELISA Treponema pallidum, Ig Serum ECLIA Toxoplasma gondii, IgG, IgM Serum ECLIA Untersuchungsart: Mikroskopie* Analyt (Messgröße) Bakterien, Pilze Abstrich Hellfeldmikroskopie nach Anfärbung mittels Farbstoffen Chlamydia trachomatis, psittaci, pneumoniae, IgG, IgM Serum Untersuchungsart: Molekularbiologische Untersuchungen (Amplifikationsverfahren)* indirekte Immunfluoreszenzmikroskopie (MIF) Analyt (Messgröße) Bordetalla pertussis, DNA Abstrich, Sputum Real-Time PCR Bordetella parapertussis, DNA Abstrich, Sputum Real-Time PCR Borrelia burgdorferi, DNA DNA, Punktat, Liqour Real-Time PCR Chlamydia trachomatis, Neisseria gonorrhoeae, DNA Chlamydia trachomatis, Mycolpasma hominis, genitalium, Neisseria gonorrhoeae, Trichomonas vaginalis, Ureaplasma urealyticum, parvum, DNA Chlamydia pneumoniae, Haemophilus influenzae, Mycoplasma pneumoniae, Staphylococcus aureus, DNA Abstrich, Sputum Abstrich, Urin, Ejakulat Abstrich, Sputum Real-Time PCR (Duplex-PCR) Real-time PCR (Oligoplex-PCR) Real-time PCR (Oligoplex-PCR) Entfristet am: Seite 210 von 213

213 Untersuchungsgebiet: Virologie Untersuchungsart: Ligandenassays* Analyt (Messgröße) Cytomegalievirus, IgG, IgM Serum, Plasma ELISA Enteroviren, IgG, IgM Serum, Plasma ELISA Eppstein-Barr-Virus, VCA, EA, EBNA, IgG, IgM Serum, Plasma ELISA Hepatitis-A-Virus, Ig Serum, Plasma CMIA Hepatitis-A-Virus, IgM Serum, Plasma CMIA Hepatitis-B-Virus, Anti-HBc Ig Serum, Plasma CMIA Hepatitis-B-Virus, Anti-HBc IgM Serum, Plasma CMIA Hepatitis-B-Virus, Anti-HBe Ig Serum, Plasma CMIA Hepatitis-B-Virus, Anti-HBs Ig Serum, Plasma CMIA Hepatititis-B-Virus, HBe-Antigen Serum, Plasma CMIA Hepatitis-B-Virus, HBs-Antigen, qualitativ Hepatitis-B-Virus, HBs-Antigen, quantitativ Serum, Plasma Serum, Plasma CMIA CMIA Hepatitis-C-Virus, Ig Serum, Plasma CMIA Hepatitis-C-Virus, Ig Serum, Plasma Immunoblot Hepatitis-D-Virus, Ig Serum, Plasma ELISA Hepatitis-E-Virus, IgG, IGM Serum, Plasma ELISA Herpes-Simplex-Virus, IgG, IgM Serum, Plasma ELISA Humanes Immundefizienzvirus, Antigen + Antikörper Humanes Immundefizienzvirus, Antikörper Serum, Plasma Serum, Plasma CMIA Parvovirus B19, IgG, IgM Serum, Plasma ELISA Rötelnvirus, IgG, IgM Serum, Plasma CMIA Immunoblot Entfristet am: Seite 211 von 213

214 Untersuchungsart: Molekularbiologische Untersuchungen (Amplifikationsverfahren)* Analyt (Messgröße) Adenoviren, DNA, Enteroviren, Parechoviren, RNA Coronaviren, Humanes Metapneumovirus, Influenzaviren, Parainfluenzaviren, Respiratory- Syncytial-Virus, Rhinoviren, RNA Abstrich, Sputum, Stuhl, Serum Abstrich, Sputum, Stuhl, Serum Real-time PCR (Triplex-PCR) Hepatitis-B-Virus, DNA, quantitativ Serum, Plasma Real-time PCR Hepatits-C-Virus, RNA, quantitativ Serum, Plasma Real-time PCR Hepatits-C-Virus, RNA, Genotyp Serum, Plasma Real-time PCR Humans Immundefizienzvirus, RNA, quantitativ Serum, Plasma Real-time PCR (Oligoplex-PCR) Real-time PCR Zikavirus, RNA Blut, Urin Real-time PCR Untersuchungsart: Molekularbiologische Untersuchungen (Amplifikationsverfahren)** Analyt (Messgröße) Hepatits-C-Virus, RNA, Genotyp Core Serum, Plasma Real-time PCR Untersuchungsgebiet: Transfusionsmedizin Untersuchungsart: Agglutinationsteste** Analyt (Messgröße) AB0-Blutgruppenbestimmung EDTA-Blut / Vollblut Hämagglutinationstest / Geltechnik Serumgegenprobe zur AB0- Bestimmung EDTA-Blut / Vollblut Hämagglutinationstest / Geltechnik Rh-D-Bestimmung EDTA-Blut / Vollblut Hämagglutinationstest / Geltechnik Rhesusformel EDTA-Blut / Vollblut Hämagglutinationstest / Geltechnik Kellsystem EDTA-Blut / Vollblut Hämagglutinationstest / Geltechnik Antikörpersuchtest EDTA-Blut / Vollblut Hämagglutinationstest / Geltechnik direkter Coombstest EDTA-Blut / Vollblut Hämagglutinationstest / Geltechnik Entfristet am: Seite 212 von 213

215 Untersuchungsart: Durchflusszytometrie** Analyt (Messgröße) HLA-Crossmatch CPDA1-Blut, Serum Durchflusszytometrie HLA-Antikörper Serum Festphasenassay Untersuchungsart: Molekularbiologische Untersuchungen (Amplifikationsverfahren)** Analyt (Messgröße) HLA-Klasse I, II Genomische DNA SSO HLA-Klasse I, II Genomische DNA SSP HLA-Klasse I Genomische DNA DNA-Sequenzierung HLA-Klasse II Genomische DNA DNA-Sequenzierung HLA-Klasse II Genomische DNA DNA-Sequenzierung HLA-Klasse I Genomische DNA MiSeq/HiSeq Illumina, IMGT HLA- Datenbank HLA-Klasse II Genomische DNA MiSeq/HiSeq Illumina, IMGT HLA- Datenbank KIR Genomische DNA SSP KIR Genomische DNA SSO Entfristet am: Seite 213 von 213