ZERTIFIKAT. Ringversuch vom Sie haben die Anforderungen des Ringversuchs mit den folgenden Untersuchungen erfüllt

Transkript

1 Set 01 - Laktase-Gen (LCT) (770): Laktase-Gen (LCT) (T C) (R: B5) Set 02 - ApoB (771): Apo B 100 (R 3500 Q) (R: B5) Set 04 - CYP21A2 21-Hydroxylase (773): Cyp21A2 Gen (Dei 8bp) (R: B5) Cyp21A2 Gen (E6 Cluster) (R: B5) Cyp21A2 Gen (F306 + T) (R: B5) Cyp21A2 Gen (1172 N) (R: B5) Cyp21A2 Gen (12 G) (R: B5) Cyp21A2 Gen (P 30 L) (R: B5) Cyp21A2 Gen (P 453 5) (R: B5) Cyp21A2 Gen (Q 318 X) (R : B5) Cyp21A2 Gen (R 356 W) (R: B5) Cyp21A2 Gen (V 281 L) (R: B5) D-EP ~ 17'~ / 4 7' 'f"- /{ / Gesellschaft zur Förderung der Qualitätssicherung ~~ _,,/ ~ in medizinischen Laboratorien e.v. ~ Ubierstr. 20 l Düsseldorf 1/37

2 Ringversuch vom Set 06 - CYP2C9 CYP2C19 VKORC1 TPMT (775): CYP2C19*2 Allel: G 681 A (R: BS) CYP2C19*3 Allel: G 636 A (R: BS) CYP2C9*2 Allel: C 430 T (R: BS) CYP2C9*3 Allel: A 1075 C (R: BS) TPMT*2 Allel (nt. G 238 C) (R: BS) TPMT (nt. A 719 G) (R: BS) TPMT (nt. G 460 A) (R: BS) Set 08 - CYP2D6 DPD IL28B (777): CYP2D6*5: komplette Deletion (R: BS) CYP2D6 Gen Duplikation (R: BS) DPD (Exon 14 skipping) IL-28B C/T: rs z.h. Frau Julia Trietz O-EP ~ rörderung!<.'-1-u O'e,_ J" ~ p'"'?'- 8; ~. ~~- ~ ~ 41 Qualitätskontrolle ~ ~ und Ringversuch ~ OQ O,;<' ;;o DÜSSELDORF,,-S- ~v- '1e7 ua4js\\l\1-'ll Prof_ Dr. med. Friedrich Ma ly (Ringversuchs leiter) Gesellschaft zur Förderung der Qualitätssicherung in medizinischen Laboratorien e.v. Ubierstr. 20 j Düsseldorf 2 / 37

3 Set 09 - CFTR Common Mutations (778): CFTR Gen (1078 del T) (R: B5) CFTR Gen (1677 delta) (R: B5) CFTR Gen ( G>A) (R : B5) CFTR Gen (2143 del T) (R: B5) CFTR Gen (2183A A>G) (R: B5) CFTR Gen (2184 dela) (R: B5) CFTR Gen (2184 ins A) (R: B5) CFTR Gen ( G>A) (R: B5) CFTR Gen ( A>G) (R: B5) CFTR Gen (3659 del C} (R: B5) CFTR Gen ( kb C> T) (R: B5) CFTR Gen (3905insT) (R: B5) CFTR Gen (621+1 G>T) (R: B5) CFTR Gen (A455E) (R: B5) CFTR Gen (dele2,3 (21kb)) (R: B5) CFTR Gen (delta F 508) (R: B5) CFTR Gen (E 60 X} (R: B5) CFTR Gen (E 92 X) (R: B5) CFTR Gen (G 542 X) (R: B5) CFTR Gen (G 551 D) (R: B5) CFTR Gen (G 85 E} (R: B5) CFTR Gen (1 336 K} (R: B5) CFTR Gen (1 507 del) (R: B5) CFTR Gen (lntron 8 (Polypyrimidine Tract)) (R: B5) CFTR Gen (M 1101 K) (R: B5) CFTR Gen (N 1303 K) (R: B5) CFTR Gen (R 1162 X) (R: B5) CFTR Gen (R 117 H) (R: B5) CFTR Gen (R 334 W) (R: B5) CFTR Gen (R 347 P/H) (R: B5) CFTR Gen (R 553 X} (R: B5) CFTR Gen (W 1282 X} (R: B5) CFTR Gen (V 1092 X (C>A)) (R: B5) D EP rörderung ~'1.1.\) O'~,;go-"' ~ p""b' 8{ 'Oi: ~~ >. :J" ß> Qualitätskontrolle J ~ und Ringversuch o 1.,...q_,c.0 DÜSSELDORF ~,$' '-Y '11!7 ua4js\u 1 ''~ Gesellscha ft zu r Förderung der Q ualitätssicherung in m edizinischen Labo ratorien e.v. Ubierstr Düsseldorf 3137

4 Set 10 - BRCA1 BRCA2 (779): BRCA1 Mutation (R: BS) BRCA2 Mutation (R: BS) BRCA2 Mutationstyp (R: BS) Set 13 - GJB2 Connexin 26 (782): GJB2 3Sdel G (Connexin 26) (R: BS) Set 14 - MSH2 MLH1 (HNPCC) (783): MLH1 Mutation (R: BS) MLH1 Mutationstyp (R: BS) MSH2 Mutation (R: BS) Set 16 - ANCR (Prader-Willi, Angelman) (786): SNRPN Gen - Diagnose SNRPN Gen - Maternales Allel (R: BS) SNRPN Gen - Paternales Allel (R: BS) Akkre ditierungsstelle O EP rörderun 8 "" 1-\) o'~,..,,;"' ~ p~"'! l >. ;r 1!J Qualilätskontrolle 2 ~ und Ringversuc h ~ vo_,~ DÜSSELDORF...S ;;o ~...,., '11?7 u a 4 JS \1J\1.'~ Gesellschaft zur Förderung der Qualitätssicherung in medizinischen Laboratorien e.v. Ubierstr. 20 J Düsseldorf 4 /37

5 Set 17 - SMN1 (Spinale Muskelatrophie) (787): SMN1 Gen - Exon 7 Deletion (R: BS) SMN1 Gen - Exon 8 Deletion (R: BS) Deut sche Akkred iti erungsstelle D-EP (Leiter der Referenzin stitution) Gesellschaft zu r Förd erung der Qualitätssicherung in medizinischen Laboratori en e.v. Ubierstr Dü sseldorf 5 / 37