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Dr. med. Andrea Bier

Priv.-Doz. Dr. med. Stefan Krüger

Dr. med. Silke Reif

Fachärzte für Humangenetik

Qualitätssicherung


Um die Qualität der Analysen dauerhaft sicherzustellen, nimmt unser Labor regelmäßig an nationalen und internationalen Qualitätssicherungsprogrammen teil.

Jahr Name des Ringversuchs Organisation
Mai 2019 ATP7B RfB
Mai 2019 ApoE RfB
Mai 2019 ApoB100 RfB
Mai 2019 Aldolase B RfB
Mai 2019 HFE (Hereditary Haemochromatosis) RfB
Mai 2019 LCT (lactose intolerance) RfB
Mai 2019 SERPINA1 RfB
Mai 2019 MTHFR (Homocystinuria) RfB
Mai 2019 Prothrombin 20210 RfB
Mai 2019 Faktor V (Leiden) RfB
Mai 2019 CYP2D6 RfB
Mai 2019 HLA B27 RfB
Nov 2018 CFTR INSTAND
Nov 2018 BRCA1 / BRCA2 INSTAND
Nov 2018 GJB2 INSTAND
Nov 2018 MLH1/MSH2 INSTAND
Nov 2018 Dystrophin INSTAND
Nov 2018 HTT INSTAND
Nov 2018 SMN1 INSTAND
Nov 2018 CYP21A2 INSTAND
Okt 2018 ApoE RfB
Okt 2018 ApoB100 RfB
Okt 2018 Aldolase B RfB
Okt 2018 HFE (Hereditary Haemochromatosis) RfB
Okt 2018 LCT (lactose intolerance) RfB
Okt 2018 SERPINA1 RfB
Okt 2018 MTHFR (Homocystinuria) RfB
Okt 2018 Prothrombin 20210 RfB
Okt 2018 Faktor V (Leiden) RfB
Okt 2018 HLA B27 RfB
Okt 2018 DPD Exon 14 skipping RfB
Okt 2018 Classification of variants (trial) GenQA
Aug 2018 Classification of BRCA1 and BRCA2 variants Run2 EMQN/GenQA
Jul 2018 HRF (Hereditary Recurrent Fevers) EMQN
Apr 2018 Faktor V (Leiden) RfB
Apr 2018 Prothrombin 20210 RfB
Apr 2018 MTHFR (Homocystinuria) RfB
Apr 2018 SERPINA1 RfB
Apr 2018 ApoE RfB
Apr 2018 ApoB100 RfB
Apr 2018 Aldolase B RfB
Apr 2018 HFE (Hereditary Haemochromatosis) RfB
Apr 2018 LCT (lactose intolerance) RfB
Apr 2018 ATP7B (Morbus Wilson) RfB
Apr 2018 HLA B27 RfB
Apr 2018 CYP2D6 RfB
Nov 2017 Classification of BRCA1 and BRCA2 variants UK NEQAS
Okt 2017 Faktor V (Leiden) RfB
Okt 2017 Prothrombin 20210 RfB
Okt 2017 MTHFR (Homocystinuria) RfB
Okt 2017 SERPINA1 RfB
Okt 2017 ApoE RfB
Okt 2017 ApoB100 RfB
Okt 2017 Aldolase B RfB
Okt 2017 HFE (Hereditary Haemochromatosis) RfB
Okt 2017 LCT (lactose intolerance) RfB
Okt 2017 HLA B27 RfB
Okt 2017 CYP2D6 RfB
Okt 2017 CYP21A2 INSTAND
Okt 2017 CFTR INSTAND
Okt 2017 BRCA1 / BRCA2 INSTAND
Okt 2017 GJB2 INSTAND
Okt 2017 MLH1/MSH2 INSTAND
Okt 2017 Dystrophin INSTAND
Okt 2017 HTT INSTAND
Okt 2017 SMN1 INSTAND
Mai 2017 ABCA4 Probenaustausch
Mai 2017 RS1 Probenaustausch
Mai 2017 PRPH2 Probenaustausch
Mai 2017 Faktor V (Leiden) RfB
Mai 2017 Prothrombin 20210 RfB
Mai 2017 HFE (Hereditary Haemochromatosis) RfB
Mai 2017 ApoB100 RfB
Mai 2017 ApoE RfB
Mai 2017 SERPINA1 RfB
Mai 2017 LCT (lactose intolerance) RfB
Mai 2017 HLA B27 RfB
Mai 2017 CYP2D6 RfB
Mai 2017 MTHFR (Homocystinuria) RfB
Mai 2017 Aldolase B RfB
Mai 2017 ATP7B (Morbus Wilson) RfB
Dez 2016 TP53 INSTAND
Nov 2016 Faktor V (Leiden) INSTAND
Nov 2016 Prothrombin 20210 INSTAND
Sep 2016 HFE (Hereditary Haemochromatosis) INSTAND
Sep 2016 ApoB100 INSTAND
Sep 2016 ApoE INSTAND
Sep 2016 SERPINA1 INSTAND
Sep 2016 LCT (lactose intolerance) INSTAND
Sep 2016 HLA B27 INSTAND
Sep 2016 CYP2D6 INSTAND
Sep 2016 Hb S (sickle cell haemoglobin) INSTAND
Sep 2016 DPD   (5-fluorouracil toxicity) INSTAND
Sep 2016 PRNP (prionopathy) INSTAND
Sep 2016 GJB2 (Connexin 26) INSTAND
Sep 2016 MSH2 / MLH1 (HNPCC) INSTAND
Sep 2016 HTT (Huntington Disease) INSTAND
Sep 2016 SMN1 (Spinal muscular atrophy) INSTAND
2016 FH (Familial autosomal dominant hypercholesterolemia) EMQN
2016 FRDA (Friedreich Ataxia) EMQN
2016 MONODIAB (Monogenic Diabetes) EMQN
2016 SHOX (Familial SHOX-related disorders) EMQN
2016 Wilson Disease EMQN
Mai 2016 Faktor V (Leiden) INSTAND
Mai 2016 Prothrombin 20210 INSTAND
Mai 2016 HFE (Hereditary Haemochromatosis) INSTAND
Mai 2016 ApoB100 INSTAND
Mai 2016 ApoE INSTAND
Mai 2016 SERPINA1 INSTAND
Mai 2016 LCT (lactose intolerance) INSTAND
Mai 2016 HLA B27 INSTAND
Mai 2016 HLA DQA1 *05/ DQB1*02 / DQB1*03:02 INSTAND
Mai 2016 CYP21B INSTAND
Mai 2016 CYP2D6 INSTAND
Mai 2016 Hb S (sickle cell haemoglobin) INSTAND
Mai 2016 DPD   (5-fluorouracil toxicity) INSTAND
Mai 2016 PRNP (prionopathy) INSTAND
Mai 2016 CFTR INSTAND
Mai 2016 BRCA1 / BRCA2 INSTAND
Mai 2016 Dystrophin  (Duchenne / Becker Muscular Dystrophy) INSTAND
2015 Faktor V (Leiden) INSTAND
2015 Prothrombin 20210 INSTAND
2015 HFE (Hereditary Haemochromatosis) INSTAND
2015 ApoB100 INSTAND
2015 ApoE INSTAND
2015 LCT (lactose intolerance) INSTAND
2015 HLA B27 INSTAND
2015 HLA DQA1 *05/ DQB1*02 / DQB1*03:02 INSTAND
2015 CYP2D6 INSTAND
2015 Hb S (sickle cell haemoglobin) INSTAND
2015 DPD   (5-fluorouracil toxicity) INSTAND
2015 PRNP (prionopathy) INSTAND
2015 Dystrophin  (Duchenne / Becker Muscular Dystrophy) INSTAND
2015 GJB2  (Connexin 26) INSTAND
2015 HTT (Huntington Disease) INSTAND
2015 SMN1 (Spinal muscular atrophy) INSTAND
2015 Cystic fibrosis CF network
2015 APKD (Autosomal Dominant Polycystic Kidney disease) EMQN
2015 BRCA (Full sheme) EMQN
2015 CAH (Congenital Adrenal hyperplasia) EMQN
2015 HNPCC (Lynch syndrome) EMQN
2015 MONODIAB (Monogenic Diabetes) EMQN
2015 OI (Osteogenesis Imperfecta) EMQN
2015 Wilson Disease EMQN
2015 Faktor V (Leiden) RfB
2015 a1-Proteinase-Inhibitor RfB
2015 Aldolase B RfB
2015 Faktor II RfB
2015 ApoE RfB
2015 HFE (Hereditary Haemochromatosis) RfB
2015 MTHFR (Homocystinuria) RfB
2015 ApoB100 RfB
2015 HLA-B27 RfB
2015 CYP2D6 RfB
2014 MONODIAB (Monogenic Diabetes) EMQN
2014 SMA (Spinal muscular atrophy) EMQN
2014 HFE (Hereditary Haemochromatosis) EMQN
2014 BRCA (Full scheme) EMQN
2014 DFNB1 (Hereditary Deafness) EMQN
2014 DMD (Duchenne / Becker Muscular Dystrophy) EMQN
2014 HD (Huntington Disease) EMQN
2014 HNPCC (Lynch Syndrome) EMQN
2012 HFE (Hereditary Haemochromatosis) EMQN
2012 DMD (Duchenne / Becker Muscular Dystrophy) EMQN
2012 HNPCC (Lynch syndrome) EMQN
2012 HD (Huntington Disease) EMQN
2012 BRCA (Full scheme) EMQN
2012 DFNB1 (Hereditary Deafness) EMQN
2012 SMA (Spinal Muscular Atrophy) EMQN
2011 FAP (Familial adenomatous polyposis) EMQN
2011 MEN2 (Multiple Endocrine Neoplasia Type 2) EMQN
2011 PKU (Phenylketonuria ) EMQN
2011 SMA (Spinal Muscular Atrophy) EMQN
2010 BRCA (Full sheme) EMQN
2010 HNPCC (Lynch syndrome) EMQN
2010 CMT (Charcot-Marie-Tooth disease) EMQN
2010 VHL (Von Hippel Lindau Syndrome) EMQN

Gemein­schafts­praxis für Human­genetik

Gutenbergstraße 5
01307 Dresden
Tel. 0351 44 66 34 0
Fax 0351 44 66 34 15
praxis@medizinische-genetik-dresden.de