Molecular Genetic Testing - External Quality Assessment Scheme provision (2007)

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, congential	EMQN 1
	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
Chimerism	RCPA QAP8
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
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 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)
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 (MEN)
Myotonic Dystrophy (DM)	EMQN 10 (pilot scheme)
	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)
Porphyria variegate	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)	EMQN
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

Somatic Mutations

Method	Organisation
bcl-1, bcl-2	RCPA QAP8
bcr-abl rearrangement for ALL, CML	RCPA QAP8
Immunoglobuline heavy-chain rearrangement	DGP-QuIP18
	ÖGP3
	RCPA QAP8
T-cell receptor gene - rearrangement	DGP-QuIP18
	ÖGP3
	RCPA QAP8

Methodological

Method	Organisation
DNA sequencing	DGKL 2 (RfB) 12
	EMQN 10
Mutation scanning	EMQN 10 (pilot scheme)
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
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.

Last changed: 2008-10-14