Quality control

OECD Guidelines for Quality Assurance in Molecular Genetic Testing in English and French
OECD , 2007

Technical Standards and Guidelines for CFTR Mutation Testing
ACMG , 2006 edition

Quality control in molecular genetic testing
Dequeker et al. , Nature Reviews Genetics, 2001, 2, 717-723 (PDF, 376 KB)

Genetic testing and quality control in diagnostic laboratories
Dequeker E, Cassiman J-J , Nature Genetics, 2000, 25, 259-260 (PDF, 131KB)

Recommendations for quality improvement in genetic testing for cystic fibrosis
Dequeker et al. , European Journal of Human Genetics, 2000, 8, S2-S24 (PDF, 249KB)

Evaluation of CFTR gene mutation testing methods in 136 diagnostic laboratories: report of a large European external quality assessment
Dequeker E, Cassiman J-J , European Journal of Human Genetics, 1998, 6, 165 -175

A quality control study of CFTR mutation screening in 40 different European laboratories
Cuppens H, Cassiman J-J , European Journal of Human Genetics, 1995, 3, 235-245

Evaluation and use of a synthetic quality control material, included in the European external quality assessment scheme for cystic fibrosis
Sarah Berwouts, Joan T. Gordon, Clark A. Rundell, David E. Barton, Elisabeth Dequeker, Human Mutation Volume 29, Issue 8, Pages 1063-1070, August 2008

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations
Els Dequeker, Manfred Stuhrmann, Michael A Morris, Teresa Casals, Carlo Castellani,Mireille Claustres, Harry Cuppens, Marie Des Georges, Claude Ferec, Milan Macek, Pier-Franco Pignatti, Hans Scheffer, Marianne Schwartz, Michal Witt, Martin Schwarz and Emmanuelle Girodon, European Journal of Human Genetics, August 2008

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