Gemeinschaftspraxis für Humangenetik
Fachärzte für Humangenetik:
Dr. med. Andrea Bier
Priv.-Doz. Dr. med. Stefan Krüger, MHBA
Dr. med. Silke Reif
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Qualitätssicherung

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

Jahr
Name des Ringversuchs
Organisation
Nov. 2023
Antithrombin (SERPINC1)
INSTAND
Nov. 2023
BRCA1, BRCA2 and HRR gene variant classification assesment (Run 11)
EMQN/GenQA
Okt. 2023
ApoE
RfB
Okt. 2023
ApoB100
RfB
Okt. 2023
Aldolase B
RfB
Okt. 2023
HFE
RfB
Okt. 2023
MTHFR
RfB
Okt. 2023
Prothrombin 20210
RfB
Okt. 2023
Faktor V (Leiden)
RfB
Okt. 2023
UGT1A1*28
RfB
Okt. 2023
HLA B27
RfB
Okt. 2023
DPD Exon 14 skipping, c.1129-5923C>G, D949V, *13
RfB
Okt. 2023
SERPINA1
RfB
Okt. 2023
LCT (lactose intolerance)
RfB
Aug. 2023
BRCA1 / BRCA2
INSTAND
Juni 2023
CFTR
INSTAND
Juni 2023
ApoB100
RfB
Juni 2023
ATP7B
RfB
Juni 2023
HFE
RfB
Juni 2023
LCT (lactose intolerance)
RfB
Juni 2023
ApoE
RfB
Juni 2023
Aldolase B
RfB
Juni 2023
SERPINA1
RfB
Juni 2023
Prothrombin 20210
RfB
Juni 2023
Faktor V (Leiden)
RfB
Juni 2023
HLA B27
RfB
Juni 2023
MTHFR
RfB
Mai 2023
HTT
INSTAND
Mai 2023
Dystrophin
INSTAND
Mai 2023
GJB2
INSTAND
Mai 2023
CYP21A2
INSTAND
Mai 2023
SMN1
EMQN/GenQA
Apr. 2023
Classification of BRCA and HRR variants (Run 10)
EMQN/GenQA
Feb. 2023
UDP-Glucuronyltransferase 1
INSTAND
Nov. 2022
HLA DQA1*05, DQB1*02, DQB1*03:02
INSTAND
Nov. 2022
SERPINA1
RfB
Nov. 2022
Faktor V (Leiden)
RfB
Nov. 2022
APOE
RfB
Nov. 2022
MTHFR
RfB
Nov. 2022
HFE
RfB
Nov. 2022
ApoB100
RfB
Nov. 2022
Aldolase B
RfB
Nov. 2022
LCT (lactose intolerance)
RfB
Nov. 2022
Prothrombin 20210
RfB
Nov. 2022
HLA B27
RfB
Nov. 2022
Classification of BRCA1 and BRCA2 variants Run 9
EMQN/GenQA
Juli 2022
Classification of BRCA1 and BRCA2 variants Run 8
EMQN/GenQA
Mai 2022
HLA B27
RfB
Mai 2022
DPD Exon 14 skipping, c.1129-5923C>G, D949V, *13
RfB
Mai 2022
ApoB100
RfB
Mai 2022
Faktor V (Leiden)
RfB
Mai 2022
SERPINA1
RfB
Mai 2022
Prothrombin 20210
RfB
Mai 2022
MTHFR
RfB
Mai 2022
Aldolase B
RfB
Mai 2022
HFE
RfB
Mai 2022
ApoE
RfB
Mai 2022
ATP7B
RfB
Mai 2022
LCT (lactose intolerance)
RfB
Apr. 2022
MLH1/MSH2
INSTAND
Apr. 2022
BRCA1 / BRCA2
INSTAND
Apr. 2022
AZF (Y-Chromosom Mikrodeletion)
INSTAND
Apr. 2022
CFTR
INSTAND
Nov. 2021
Classification of BRCA and HRR variants
EMQN/GenQA
Nov. 2021
HLA B27
RfB
Nov. 2021
CYP21A2
INSTAND
Nov. 2021
LCT (lactose intolerance)
RfB
Nov. 2021
HTT
INSTAND
Nov. 2021
SMN1
INSTAND
Nov. 2021
GJB2
INSTAND
Nov. 2021
Dystrophin
INSTAND
Nov. 2021
Aldolase B
RfB
Nov. 2021
ApoE
RfB
Nov. 2021
SERPINA1
RfB
Nov. 2021
ApoB100
RfB
Nov. 2021
MTHFR
RfB
Nov. 2021
Prothrombin 20210
RfB
Nov. 2021
Faktor V (Leiden)
RfB
Nov. 2021
HFE
RfB
Juni 2021
Classification of BRCA and HRR variants
EMQN/GenQA
Mai 2021
Prothrombin 20210
RfB
Mai 2021
MTHFR
RfB
Mai 2021
HLA B27
RfB
Mai 2021
Faktor V (Leiden)
RfB
Mai 2021
ApoE
RfB
Mai 2021
CYP2D6
RfB
Mai 2021
ATP7B
RfB
Mai 2021
MTHFR
RfB
Mai 2021
Aldolase B
RfB
Mai 2021
HFE
RfB
Mai 2021
LCT (lactose intolerance)
RfB
Mai 2021
SERPINA1
RfB
Mai 2021
ApoB100
RfB
Mai 2021
DPD Exon 14 skipping, c.1129-5923C>G, D949V, *13
RfB
Apr. 2021
AZF (Y-Chromosom Mikrodeletion)
INSTAND
Apr. 2021
CFTR
INSTAND
Apr. 2021
MLH1/MSH2
INSTAND
Apr. 2021
BRCA1 / BRCA2
INSTAND
Jan. 2021
KCNA1
Probenaustausch
Jan. 2021
NKX2-1
Probenaustausch
Dez. 2020
Classification of BRCA and HRR variants
INSTAND
Nov. 2020
Classification of BRCA1 and BRCA2 variants Run 4
EMQN/GenQA
Nov. 2020
BRCA1 / BRCA2
INSTAND
Nov. 2020
Dystrophin
INSTAND
Nov. 2020
HTT
INSTAND
Nov. 2020
GJB2
INSTAND
Nov. 2020
CYP21A2
INSTAND
Nov. 2020
SMN1
INSTAND
Nov. 2020
LCT (lactose intolerance)
RfB
Nov. 2020
Faktor V (Leiden)
RfB
Nov. 2020
ApoB100
RfB
Nov. 2020
MTHFR
RfB
Nov. 2020
Prothrombin 20210
RfB
Nov. 2020
HLA B27
RfB
Nov. 2020
SERPINA1
RfB
Nov. 2020
Aldolase B
RfB
Nov. 2020
ApoE
RfB
Nov. 2020
CYP2D6
RfB
Juni 2020
Faktor V (Leiden)
RfB
Juni 2020
ApoE
RfB
Juni 2020
HFE
RfB
Juni 2020
ATP7B
RfB
Juni 2020
Prothrombin 20210
RfB
Juni 2020
MTHFR
RfB
Juni 2020
SERPINA1
RfB
Juni 2020
ApoB100
RfB
Juni 2020
Aldolase B
RfB
Juni 2020
HLA B27
RfB
Juni 2020
DPD Exon 14 skipping
RfB
Juni 2020
LCT (lactose intolerance)
RfB
Apr. 2020
CFTR
INSTAND
Apr. 2020
AZF (Y-Chromosom Mikrodeletion)
INSTAND
Apr. 2020
MLH1/MSH2
INSTAND
Dez. 2019
Dystrophin
INSTAND
Dez. 2019
GJB2
INSTAND
Dez. 2019
HTT
INSTAND
Dez. 2019
SMN1
INSTAND
Dez. 2019
CYP21A2
INSTAND
Dez. 2019
OVARIAN CANCER (v Germline)
EMQN
Dez. 2019
OVARIAN CANCER (v Somatic)
EMQN
Nov. 2019
Classification of BRCA1 and BRCA2 variants Run 3
EMQN/GenQA
Okt. 2019
CYP2D6
RfB
Okt. 2019
HLA B27
RfB
Okt. 2019
Prothrombin 20210
RfB
Okt. 2019
ApoE
RfB
Okt. 2019
MTHFR
RfB
Okt. 2019
LCT (lactose intolerance)
RfB
Okt. 2019
SERPINA1
RfB
Okt. 2019
Aldolase B
RfB
Okt. 2019
HFE
RfB
Okt. 2019
Faktor V (Leiden)
RfB
Okt. 2019
ApoB100
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
Mai 2019
ATP7B
RfB
Mai 2019
ApoE
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
EMQN/GenQA
Juli 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
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
Nov. 2016
Faktor V (Leiden)
INSTAND
Nov. 2016
Prothrombin 20210
INSTAND
Sept. 2016
HFE (Hereditary Haemochromatosis)
INSTAND
Sept. 2016
ApoB100
INSTAND
Sept. 2016
SERPINA1
INSTAND
Sept. 2016
ApoE
INSTAND
Sept. 2016
LCT (lactose intolerance)
INSTAND
Sept. 2016
HLA B27
INSTAND
Sept. 2016
CYP2D6
INSTAND
Sept. 2016
Hb S (sickle cell haemoglobin)
INSTAND
Sept. 2016
DPD (5-fluorouracil toxicity)
INSTAND
Sept. 2016
PRNP (prionopathy)
INSTAND
Sept. 2016
GJB2 (Connexin 26)
INSTAND
Sept. 2016
MSH2 / MLH1 (HNPCC)
INSTAND
Sept. 2016
HTT (Huntington Disease)
INSTAND
Sept. 2016
SMN1 (Spinal muscular atrophy)
INSTAND
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
Mai 2024