Molecular Genetic Testing - External Quality Assessment Scheme provision

Constitutional mutations

Disorder Organisation

ACE (Angiotensin I Converting Enzyme)

DGKL 2 (RfB) 12
ECAT7 (in collaboration with DGKL)
ÖQUASTA 4 (in collaboration with DGKL)

Adenomatous Polyposis of the Colon (APC)

IEQA-ISS 19

Adrenal hyperplasia, congenital

EMQN 10
INSTAND11

alpha-1-Antitrypsin (PiM, PiS, PiZ) - a1-Proteinase Inhibitor /M/S/Z)

DGKL 2 (RfB) 12
ECAT 7 (in collaboration with DGKL)
INSTAND 11
ÖQUASTA 4 (in collaboration with DGKL)

Apolipoprotein B100 (ApoB100)

DGKL 2 (RfB) 12
ECAT7 (in collaboration with DGKL)
INSTAND11
ÖQUASTA 4 (in collaboration with DGKL)

Apolipoprotein E (ApoE): E2/E3/E4

DGKL 2 (RfB) 12
ECAT7 (in collaboration with DGKL)
EQUALIS15
INSTAND11
LABQUALITY 16 (in cooperation with EQUALIS)
ÖQUASTA 4 (in collaboration with DGKL)

Breast/ovarian cancer familial (BRCA1, BRCA2)


EMQN 10
UKNEQAS 13, 14

CETP (Cholesterol Ester Transfer Protein)

DGKL 2 (RfB) 12
ECAT7 (in collaboration with DGKL)
ÖQUASTA 4 (in collaboration with DGKL)

Charcot-Marie-Tooth Disease (CMT)

EMQN 10

Collagen Receptor (GPIaIIa)

INSTAND11

Cystic Fibrosis (CF)

CF Network9/ EuroGentest21

INSTAND11

UKNEQAS 13, 14
IEQA-ISS 19

Duchenne/Becker Muscular Dystrophy (DMD/BMD)

EMQN 10
UKNEQAS 13, 14

Factor V Leiden

DGKL 2 (RfB) 12
ECAT7 (in collaboration with DGKL)
EQUALIS15
INSTAND 11
LABQUALITY 16 (in cooperation with EQUALIS)
ÖQUASTA 4 (in collaboration with DGKL)
QualiCont20
RCPA QAP 8
UKNEQAS 17

Factor XII-activating protease marburg I [HABP2, GLY534GLU] FSAP (Marburg-I)

DGKL 2

Factor XIII

DGKL 2 (RfB) 12
ECAT7 (in collaboration with DGKL)
INSTAND 11
ÖQUASTA 4 (in collaboration with DGKL)

Familial adenomatous polyposis (FAP)

UKNEQAS 13, 14

Fibrinogen, ß polypeptide; FGB (ß Fib g-455a)

DGKL 2

Fragile-X-Syndrome (FRAX)

EMQN 10
IEQA-ISS 19
LABQUALITY 16
UKNEQAS 13, 14

Friedreich Ataxia (FRDA)

EMQN 10
UKNEQAS13,14

GP IIb IIIa (Glycoprotein IIb IIIa)

DGKL 2 (RfB) 12
ECAT7 (in collaboration with DGKL)
INSTAND 11
ÖQUASTA 4 (in collaboration with DGKL)

Haemophilia A (Factor VIII)

UKNEQAS 17

Haemophilia B (Factor IX)

UKNEQAS 17

Hereditary Haemochromatosis (HFE)

DGKL 2 (RfB) 12
ECAT7 (in collaboration with DGKL)
EMQN 10
EQUALIS15
INSTAND 11
LABQUALITY 16 (in cooperation with EQUALIS)
ÖQUASTA 4 (in collaboration with DGKL)
QualiCont20
RCPA QAP8

Hereditary Haemochromatosis (HFE) _ Immunogenetics/HLA: mutation screening HFE gene (C282Y, H63D, S65C)

INSTAND 11
DGKL 2

Hereditary Motor and Sensroy Neuropathy and Hereditary Neuropathy with Liability to Pressure Palsies (HMSN/HNPP)

UKNEQAS13,14

Hereditary non-polyposis coli (HNPCC)

DGP-QuIP18
EMQN 10
UKNEQAS 13, 14

Huntington Disease (HD)

EMQN 10
UKNEQAS 13, 14

Integrin, alpha 2 (CD49B) ITGA2 Gplalla C807T

DGKL 2

Lactose Intolerance - Lactase Phlorizin Hydrolase (LCT/LPH gene: C-13910T)

DGKL 2 (RfB) 12
ECAT7 (in collaboration with DGKL)
EQUALIS15
INSTAND 11
LABQUALITY 16 (in cooperation with EQUALIS)
ÖQUASTA 4 (in collaboration with DGKL)

Maternal cell contamination with sexing (MCC & sexing)

UKNEQAS13,14

Medium Chain acyl CoA dehydrogenase deficiency molecular scheme (MCADD)

UKNEQAS 13, 14

Molecular rapid aneuploidy scheme (MRA)

UKNEQAS 13, 14

Monogenic ß-cell diabetes

EMQN 10

Mitochondrial diseases

UKNEQAS 13, 14

Methylenetetrahydrofolate Reductase (MTHFR C667T,A1298C)

DGKL 2 (RfB) 12
ECAT7 (in collaboration with DGKL)
EQUALIS15
INSTAND 11
LABQUALITY 16 (in cooperation with EQUALIS)
ÖQUASTA 4 (in collaboration with DGKL)
QualiCont20
RCPA QAP8

Morbus Wilson: Cu-Transporter-Protein ATP7B

INSTAND 11

EMQN 10 - EuroWilson

Multiple Endocrine Neoplasia (MEN2)

EMQN10

Myotonic Dystrophy (DM)

EMQN 10
UKNEQAS 13, 14

Nucleotide-binding oligomerization domain protein 2 (NOD2 R702W, G908R, L1007fins C)

DGKL 2

Phenylketonuria (PKU)

EMQN 10

Plasminogen activator inhibitor (PAI 1)

DGKL 2 (RfB) 12
ECAT7 (in collaboration with DGKL)
INSTAND 11
ÖQUASTA 4 (in collaboration with DGKL)

Porphyrias

EMQN 10

Prader-Willi/Angelman syndromes (PWS/AS)

EMQN 10
UKNEQAS 13, 14

Prothrombin G20210A (Factor II)

DGKL 2 (RfB) 12
ECAT7 (in collaboration with DGKL)
EQUALIS15
INSTAND 11
LABQUALITY 16 (in cooperation with EQUALIS)
ÖQUASTA 4 (in collaboration with DGKL)
QualiCont20
RCPA QAP8
UKNEQAS 17

Retinoblastoma (RB)

EMQN 10

Spinal Muscular Atrophy (SMA)

EMQN 10

Spinocerebellar Ataxia (SCA's)

EMQN 10
UKNEQAS 13, 14

Thalassaemia alpha/beta

RCPA QAP8
IEQA-ISS 19

TPMT (Thiopurine S-Methyltransferase)

DGKL 2 (RfB) 12
ECAT7 (in collaboration with DGKL)
ÖQUASTA 4 (in collaboration with DGKL)

UDP-Glucuronosyltransferase (UGT-1A1) - Gilbert syndrome

DGKL 2 (RfB) 12
ECAT7 (in collaboration with DGKL)
INSTAND 11

ÖQUASTA 4 (in collaboration with DGKL)

Vitamin K epoxide reductase complex, Subunit 1 (VKORC1)

DGKL 2

Von Hippel-Lindau syndrome (VHL)

EMQN10

Von Willebrand disease

UKNEQAS 17

Y-chromosome microdeletions (AZF/DAZ)

EAA5 / EMQN10

Pharmacogenetics

Method Organisation

Butyrylcholinesterase (BCHE)

INSTAND 11

Cytochrome P450 2D6 (CYP2D6)

DGKL 2 (RfB) 12
ECAT7 (in collaboration with DGKL)
ÖQUASTA 4 (in collaboration with DGKL)

Growth Hormone Receptor (GH-R)

INSTAND 11

UDP-Glycosyltransferase 1 (UGT-1A6)

INSTAND 11

Methodological

Method Organisation

DNA sequencing

DGKL 2 (RfB) 12
EMQN 10

Microarray/array CGH

EMQN10 (in collaboration with CEQA)

Mutation scanning

EMQN 10

Qualitative PCR

QualiCont20

1 Professional Association of German Human Geneticists
2 The German Society for Clinical Chemistry and Laboratory Medicine (DGKL) is the controlling body of the Reference Institute for Bioanalytics (RfB)
3 Arbeitsgruppe für Qualitätssicherung in der Molekularpathologie der Österreichischen Gesellschaft für Pathologie
4 Austrian association for Quality Assurance and Standardization of medical-diagnositc tests
5 European Academy of Andrology
7 European concerted Action on Thrombosis (=ECAT) Foundation: International Thrombophilia External Quality
8 Royal College of Pathologists of Australasia (=RCPA) Quality Assurance Programs Pty. Limited, Australia: RCPA Haematology QAP Molecular Diagnostics
9 Cystic Fibrosis European Network = European Thematic Network for Cystic Fibrosis (ETNCF) = European Community Concerted Action for Cystic Fibrosis (ECCACF)
10 European Molecular Genetics Quality Network
11 Institute for Standardization and Documentation in the Medical Laboratory (INSTAND) http://www.instand-ev.de/
12 Reference Institute for Bioanalytics (RfB) of the
13 United Kingdom National External Quality Assessment Scheme for Molecular Genetics (UK NEQAS)
14 Participation restricted to laboratories from The United Kingdom, Ireland and The Netherlands
15 External quality assurance in laboratory medicine in Sweden (EQUALIS)
16 Labquality Ltd., Finland
17 United Kingdom National External Quality Assessment Scheme for Haematology Assessment Scheme
18 German Society for Pathology
19 Italian External Quality Assurance - Istituto Superiore di Sanità
20 Hungarian External Quality Assessment organisers (QualiCont Kht.)
21 Network for test development, harmonization, validation and standardization

Acknowledgements

We would like to acknowledge the Austrian Government which originally published the base list in 2002. This list has now been substantially updated for 2007 and is presented in this document.

About EuroGentest
About Us
FAQ
Credits
LinkedIn
Policies
Privacy
Disclaimer
Accessibility
Standards Valid XHTML 1.0 Transitional Valid CSS!
Advertising
European Union
Contact Information
EuroGentest
Center for Human Genetics
University of Leuven
Herestraat 49 Box 602, 3000 Leuven, Belgium
webmastereurogentestorg, Tel: +32 16 340321, More...

Copyright EuroGentest2 Coordination Action 2011 - EU Contract no.: FP7 - HEALTH-F4-2010-261469