A standardized framework for the validation and verification of clinical molecular genetic tests

被引：144

作者：

Mattocks, Christopher J. ^{[1
]}

Morris, Michael A. ^{[2
]}

Matthijs, Gert ^{[3
]}

Swinnen, Elfriede ^{[3
]}

Corveleyn, Anniek ^{[3
]}

Dequeker, Els ^{[3
]}

Mueller, Clemens R. ^{[4
]}

Pratt, Victoria ^{[5
]}

Wallace, Andrew ^{[6
]}

机构：

[1] Salisbury Dist Hosp, Natl Genet Reference Lab Wessex, Salisbury SP2 8BJ, Wilts, England

[2] CMU, Serv Genet Med, Mol Diagnost Lab, Geneva, Switzerland

[3] Ctr Human Genet EuroGentest, Louvain, Belgium

[4] Univ Wurzburg, Dept Human Genet, Biozentrum, D-8700 Wurzburg, Germany

[5] Quest Diagnost Nichols Inst, Chantilly, VA USA

[6] St Marys Hosp, Natl Genet Reference Lab Manchester, Manchester M13 0JH, Lancs, England

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2010年 / 18卷 / 12期

关键词：

validation; verification; molecular genetics; statistics; diagnostic; DIAGNOSTIC-ACCURACY; CONTAMINATION; DNA; PRECISION; PCR;

D O I：

10.1038/ejhg.2010.101

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

The validation and verification of laboratory methods and procedures before their use in clinical testing is essential for providing a safe and useful service to clinicians and patients. This paper outlines the principles of validation and verification in the context of clinical human molecular genetic testing. We describe implementation processes, types of tests and their key validation components, and suggest some relevant statistical approaches that can be used by individual laboratories to ensure that tests are conducted to defined standards. European Journal of Human Genetics (2010) 18, 1276-1288; doi: 10.1038/ejhg.2010.101; published online 28 July 2010

引用

页码：1276 / 1288

页数：13

共 37 条

[1]

[Anonymous], EP6A NCCLS

[2]

[Anonymous], 2007, 15189 ISO

[3]

[Anonymous], 04 LAB GTA COFRAC

[4]

[Anonymous], 2004, EVALUATION PRECISION

[5]

[Anonymous], 416 EA

[6] Towards complete and accurate reporting of studies of diagnostic accuracy: The STARD initiative [J].

Bossuyt, PM ;

Reitsma, JB ;

Bruns, DE ;

Gatsonis, CA ;

Glasziou, PP ;

Irwig, LM ;

Lijmer, JG ;

Moher, D ;

Rennie, D ;

de Vet, HCW .

CLINICAL CHEMISTRY, 2003, 49 (01) :1-6

[7] Variability in the use of CE-marked assays for in vitro diagnostics of CFTR gene mutations in European genetic testing laboratories [J].

Camajova, Jana ;

Berwouts, Sarah ;

Matthijs, Gert ;

Macek, Milan, Jr. ;

Dequeker, Elisabeth .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2009, 17 (04) :537-540

[8]

CAREY RN, 2005, EP15A2 NCCLS

[9]

Eurachem, FITN PURP AN METH LA

[10]

*EUROGENTEST, FP6512148 EU EUROGEN

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