Auftrag zur DNA Panel Diagnostik Ion AmpliSeq Inherited Disease Panel

Transkript

1 Auftrag zur DNA Panel Diagnostik Ion AmpliSeq Inherited Disease Panel Patientendaten Absender Name, Vorname Geburtsdatum Institut Straße Straße Land PLZ rt Land PLZ rt Geschlecht Familienanamnese Material Entnahme: weiblich positiv unbekannt EDTA-Blut DNA männlich negativ Heparinblut Anderes: Bitte Gene nach der Indikation markieren. Die Indikationen sind alphabetisch sortiert (maximal 30 Gene pro Panel-Analyse) Agammaglobulinemia, X Linked, Type 1 - BTK Alagille Syndrome - JAG1 Alopecia Universalis Congenita (ALUNC) - HR Alpers Syndrome - PLG Alpha 1 Antitrypsin Deficiency - SERPINA1 Alpha Thalassemia Southeast Asia - HBA2 Alport Syndrome - CL4A5 Amyotrophic Lateral Sclerosis (Lou Gehrig s Disease) - SD1 Androgen Insensitivity Syndrome - AKR1B1 Angioedema, Hereditary, Types I and II - SERPING1 Aniridia - PAX6 APC Associated Polyposis Conditions - APC Argininosuccinate Lyase Deficiency - ASL Arylsulfatase A Deficiency - ARSA Ataxia with culomotor Apraxia Type 2 - APTX Ataxia with Vitamin E Deficiency - TTPA Ataxia Telangiectasia - ATM Atrial Septal Defect - GATA4 Autoimmune Polyendocrine Syndrome - AIRE Beta Hydroxyisobutyryl CoA Deacylase Deficiency - HIBCH Biotinidase Deficiency - BTD Blepharophimosis Ptosis Epicanthus Inversus - FXL2 Brachydactyly - GDF5 Brachydactyly, Type B1 - RR2 Branchiootorenal Spectrum Disorders - EYA1 Branchiootorenal Spectrum Disorders - SIX1 Branchiootorenal Spectrum Disorders - SIX5 Brugada Syndrome - CACNA1C Brugada Syndrome - CACNB2 Brugada Syndrome - GPD1L Brugada Syndrome - HCN4 Brugada Syndrome - KCNE3 Brugada Syndrome - SCN1B Brugada Syndrome - SCN3B Brugada Syndrome - SCN5A Campomelic Dysplasia - SX9 Canavan - ASPA Cardiomyopathy, Dilated - STARD3 Cardiomyopathy, Dilated - TAZ Cardiomyopathy, Dilated - DES Cardiomyopathy, Dilated - LAMP2 Cardiomyopathy, Dilated - LDB3 Cardiomyopathy, Dilated - SGCD Cardiomyopathy, Dilated - TNNC1 Cardiomyopathy, Dilated - TNNI3 Cardiomyopathy, Dilated 1AA - ACTN2 Cardiomyopathy, Dilated 1HH - BAG3 Cardiomyopathy, Dilated 1 - ABCC9 Cardiomyopathy, Dilated 1P - PLN Cardiomyopathy, Familial Hypertrophic - ACTC1 Cardiomyopathy, Familial Hypertrophic - CALR3 Cardiomyopathy, Familial Hypertrophic - CAV3 1

2 Cardiomyopathy, Familial Hypertrophic - MYBPC3 Cardiomyopathy, Familial Hypertrophic - MYH6 Cardiomyopathy, Familial Hypertrophic - MYH7 Cardiomyopathy, Familial Hypertrophic - MYL2 Cardiomyopathy, Familial Hypertrophic - MYL3 Cardiomyopathy, Familial Hypertrophic - MYLK Cardiomyopathy, Familial Hypertrophic - MYZ2 Cardiomyopathy, Familial Hypertrophic - PRKAG2 Cardiomyopathy, Familial Hypertrophic - RPS7 Cardiomyopathy, Familial Hypertrophic - SLC25A4 Cardiomyopathy, Familial Hypertrophic - TNNT2 Cardiomyopathy, Familial Hypertrophic - TPM1 Cardiomyopathy, Familial Hypertrophic - VCL Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) - DSC2 - DSG2 - DSP - JUP - PKP2 - RYR2 - TMEM43 - CASQ2 Cerebrotendinous Xanthomatosis - CYP27A1 Ceroid Lipofuscinoses (Batten Disease) - PPT1 Charcot Marie Tooth Disease Type 2B - DNM2 1A 1B 2A - PMP22 - MPZ - MFN2 Charge Syndrome - CHD7 Cherubism - SH3BP2 Choroideremia - CHM Citrin Deficiency - SLC25A13 Coffin Lowry Syndrome - RPS6KA3 Congenital Cataracts, Facial Dysmorphism, and Neuropathy Congenital Disorder of Glycosylation Type 1a - CTDP1 - PMM2 Congenital Myasthenic Syndromes - CHAT Congenital Myasthenic Syndromes - CHRNA1 Congenital Myasthenic Syndromes - CHRNB1 Congenital Myasthenic Syndromes - CHRND Congenital Myasthenic Syndromes - CHRNE Congenital Myasthenic Syndromes - DK7 Congenital Myasthenic Syndromes - RAPSN Cornelia de Lange Syndrome - NIPBL Cystic Fibrosis - CFTR Cystinosis - CTNS Darier Disease - ATP2A2 Diamond Blackfan Anemia - RPL11 Diamond Blackfan Anemia - RPL35A Diamond Blackfan Anemia - RPS10 Diamond Blackfan Anemia - RPS19 Diamond Blackfan Anemia - RPS24 Diamond Blackfan Anemia - RPS26 Double Cortex Syndrome - DCX Duane Syndrome Autosomal Dominant - SALL4 Duchenne/Becker Muscular Dystrophy - DMD Dysferlinopathy - DYSF Dyskeratosis Congenita - DKC1 Early nset Familial Alzheimer Disease - APP Early nset Familial Alzheimer Disease - PSEN1 Early nset Familial Alzheimer Disease - PSEN2 Ehlers Danlos Syndrome - CL3A1 Ehlers Danlos Syndrome, Classic Type - CL5A1 Ehlers Danlos Syndrome, Classic Type - CL5A2 Ehlers Danlos Syndrome, Hypermobility - TNXB Ehlers Danlos Syndrome, Kyphoscoliotic - PLD1 Emery Dreifuss Muscular Dystrophy - EMD Epidermolysis Bullosa Simplex - CL7A1 Epidermolysis Bullosa Simplex - ITGB4 Epidermolysis Bullosa Simplex - KRT5 Epidermolysis Bullosa Simplex - KRT14 Epidermolysis Bullosa Simplex - LAMB3 Epidermolysis Bullosa Simplex - PLEC Exostoses, Multiple, Type 1 - EXT1 Fabry Disease - GLA Facioscapulohumeral Muscular Dystrophy - FRG1 Familial Dysautonomia (HSAN III) - IKBKAP Familial Transthyretin Amyloidosis - TTR Fanconi Anemia - FANCA Fanconi Anemia - FANCC Fanconi Anemia - FANCF Fanconi Anemia - FANCG FGFR Related Craniosynostosis Syndromes - FGFR1 Friedreich Ataxia (Nur Sequenz) - FXN FRMD7 Related Infantile Nystagmus - FRMD7 Fryns Syndrome - MED12 Galactosemia - GALT Gaucher Disease - GBA Glycine Encephalopathy - AMT Glycine Encephalopathy - GCSH Glycine Encephalopathy - GLDC Glycogen Storage Disease Type VI - GBE1 Hemophilia A - F8 Hemophilia B - F9 Hereditary Hemorrhagic Telangiectasia - ENG 2

3 Hexosaminidase A Deficiency - HEXA HFE Associated Hereditary Hemochromatosis Holoprosencephaly 7 & Basal Cell Nevus Syndrome - HFE - PTCH1 Holt ram Syndrome - TBX5 Hunter Syndrome (MPSII) - IDS Hurler Syndrome (MPSI) - IDUA Hydroxymethylbilane Synthase (HMBS) Deficiency - HMBS Hypochondroplasia - FGFR3 Hypophosphatasia - ALPL Inclusion Body Myopathy 2 - GNE Inherited Deafness - CL11A2 Inherited Deafness - KCNQ4 Inherited Deafness, Top Genes - GJB2 Inherited Deafness, Top Genes - GJB3 Inherited Deafness, Top Genes - GJB6 Juvenile Polyposis Syndrome - BMPR1A Juvenile Polyposis Syndrome - SMAD4 Leber Congenital Amaurosis - AIPL1 Leber Congenital Amaurosis - CEP290 Leber Congenital Amaurosis - CRB1 Leber Congenital Amaurosis - GUCY2D Leber Congenital Amaurosis - IMPDH1 Leber Congenital Amaurosis - RDH12 Leber Congenital Amaurosis - RPE65 Leber Congenital Amaurosis - RPGRIP1 Li Fraumeni Syndrome - CHEK2 Li Fraumeni Syndrome - TP53 Limb Girdle Muscular Dystrophy Type 2A Calpainopathy - CAPN3 Limb Girdle Muscular Dystrophy, Type 1B - LMNA Lissencephaly 1 - PAFAH1B1 Long QT Syndrome, Autosomal Dominant - AKAP9 Long QT Syndrome, Autosomal Dominant - KCNE1 Long QT Syndrome, Autosomal Dominant - KCNE2 Long QT Syndrome, Autosomal Dominant - KCNH2 Long QT Syndrome, Autosomal Dominant - KCNQ1 Long QT Syndrome, Autosomal Dominant - SCN4B Long QT Syndrome, Autosomal Dominant - SNTA1 Long/Short QT Syndrome, - ANK2 Lowe Syndrome - CRL Malignant Hyperthermia Susceptibility - RYR1 Maple Syrup Urine Disease - BCKDHA Maple Syrup Urine Disease - BCKDHB Maple Syrup Urine Disease - DBT Maple Syrup Urine Disease - DLD Marfan Syndrome - FBN1 MECP2 Rett Syndrome - MECP2 Menkes/ATP7A Related CopperTransport Disease - ATP7A Methylmalonic Acidemia - MMAA Methylmalonic Acidemia - MMAB Methylmalonic Acidemia - MMACHC Methylmalonic Acidemia - MUT Mucolipidosis II - GNPTAB Multiple Endocrine Neoplasia Type 1 - MEN1 Multiple Endocrine Neoplasia Type 2 - RET Myotonia Congenita - CLCN1 Nemaline Myopathy - TNNT1 Neurofibromatosis Type 1 - NF1 Neurofibromatosis Type 2 - NF2 Niemann Pick Disease Type C1 - NPC1 Niemann Pick Disease Type C2 - NPC2 Noonan Syndrome - KRAS Noonan Syndrome - NRAS Noonan Syndrome - PTPN11 Noonan Syndrome - RAF1 Noonan Syndrome - SS1 cular Albinism, X Linked - GPR143 culocutaneous Albinism Type 1 - TYR culocutaneous Albinism Type 2 - MC1R culocutaneous Albin ism Type 2 - CA2 culopharyngeal Muscular Dystrophy - PABPN1 rnithine Transcarbamylase Deficiency - TC steogenesis Imperfecta - CL1A1 steogenesis Imperfecta - CL1A2 Parkinson Disease - FBX7 Parkinson Disease - LRRK2 Parkinson Disease - PINK1 Parkinson Disease - SNCA Parkinson Dementia Syndrome - MAPT Pendred Syndrome/Syndromic Deafness - SLC26A4 Phenylketonuria (PKU) - PAH Dominant Recessive Recessive - PKD1 - PKD2 - PKHD1 Pompe Disease GSD II - GAA Primary Ciliary Dyskinesia - CCDC39 Primary Ciliary Dyskinesia - CCDC40 Primary Ciliary Dyskinesia - DNAH5 Primary Ciliary Dyskinesia - DNAH9 Primary Ciliary Dyskinesia - DNAH11 Primary Ciliary Dyskinesia - DNAI1 Primary Ciliary Dyskinesia - DNAI2 Primary Ciliary Dyskinesia - RSPH4A Primary Ciliary Dyskinesia - RSPH9 Primary Ciliary Dyskinesia - TXNDC3 Retinitis Pigmentosa - ABCA4 Retinitis Pigmentosa - ARL6 Retinitis Pigmentosa - BEST1 Retinitis Pigmentosa - CA4 3

4 Retinitis Pigmentosa - CERKL Retinitis Pigmentosa - CNGB1 Retinitis Pigmentosa - CRX Retinitis Pigmentosa - EYS Retinitis Pigmentosa - FSCN2 Retinitis Pigmentosa - KLHL7 Retinitis Pigmentosa - LRAT Retinitis Pigmentosa - MAPRE2 Retinitis Pigmentosa - MERTK Retinitis Pigmentosa - NR2E3 Retinitis Pigmentosa - NUDT19 Retinitis Pigmentosa - PRCD Retinitis Pigmentosa - PRM1 Retinitis Pigmentosa - PRPF8 Retinitis Pigmentosa - PRPF31 Retinitis Pigmentosa - PRPH2 Retinitis Pigmentosa - RH Retinitis Pigmentosa - RP9 Retinitis Pigmentosa - RPGR Retinitis Pigmentosa - SEMA4A Retinitis Pigmentosa - SNRNP200 Retinitis Pigmentosa - SPATA7 Retinitis Pigmentosa - TPRS Retinitis Pigmentosa - TULP1 Retinoblastoma - RB1 Saethre Chotzen Syndrome - TWIST1 SCN9A Related Inherited Erythromelalgia - SCN9A Severe Combined Immunodeficiency - ADA Severe Combined Immunodeficiency - RAG1 Severe Combined Immunodeficiency - RAG2 Short QT Syndrome - KCNJ2 Sickle Cell Disease Beta Thalassemia - HBB Smith Lemli pitz Syndrome - DHCR7 Smith Magenis Syndrome - RAI1 Sotos Syndrome - NSD1 Spastic Paraplegia 7 - SPG7 Spastic Paraplegia 8 - KIAA0196 Spastic Paraplegia Type 1 L1 Syndrome - L1CAM Spastic Paraplegia 3A - ATL1 Spinocerebellar Ataxia 1 - ATXN1 Spinocerebellar Ataxia 2 - ATXN2 Spinocerebellar Ataxia 7 - ATXN7 Stickler Syndrome - CL9A1 Stickler Syndrome, AD - CL11A1 Stickler Syndrome, AD - CL2A1 Supravalvular Aortic Stenosis - ELN Tetralogy of Fallot - NKX2 5 - ACTA2 - CL4A1 - MYH11 - SMAD3 - TGFBR1 - TGFBR2 Treacher Collins Syndrome - TCF1 Trimethylaminuria - FM3 Tuberous Sclerosis Complex - TSC1 Tuberous Sclerosis Complex - TSC2 Turcot Syndrome - MLH1 Turcot Syndrome - MSH2 Usher Syndrome Type 1 - CDH23 Usher Syndrome Type 1 - MY7A Usher Syndrome Type 1 - PCDH15 Usher Syndrome Type 1 - USH1C Usher Syndrome Type 2 - USH2A Very Long Chain Acyl Coenzyme A Dehydrogenase Deficiency - ACADVL von Hippel Lindau Syndrome - VHL Waardenburg Syndrome, Type 1 - PAX3 Werner Syndrome - WRN Wilms Tumor, Classical - GPC3 Wilms Tumor, Classical - WT1 Wilson Disease - ATP7B Wiskott Aldrich Syndrome - WAS X Linked Adrenoleukodystrophy - ABCD1 X Linked Dystonia Parkinsonism - TAF1 X Linked Juvenile Retinoschisis - RS1 X Linked Myotubular Myopathy - MTM1 X Linked SCIDS - IL2RG Zellweger Syndrome - PEX1 Zellweger, Peroxisome Biogenesis - PEX3 Zellweger, Peroxisome Biogenesis - PEX10 Zellweger, Peroxisome Biogenesis - PEX13 Zellweger, Peroxisome Biogenesis - PEX14 Zellweger, Peroxisome Biogenesis - PEX19 Zellweger, Peroxisome Biogenesis - PEX26 Zellweger, Peroxisome Biogenesis,Neonatal Adrenoleucodystrophy Bearbeitungszeit 6-8 Woche Abrechnung: Datum, privat Name in Buchstaben: Einsendende Institution Unterschrift: - PEX5 Tel: Eine Abrechnung über Krankenkasse ist z.zt. nicht vorgesehen 4

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