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Quality control in molecular genetic testing

Abstract

DNA-based testing for genetic diseases has developed from nothing into a principal part of laboratory medicine over the past 15 years. In the rush to bring these powerful new technologies into medical use, issues of quality have not always been given sufficient attention. Efforts are now being made to assess the quality of the output of genetic testing laboratories, and the results show that there is room for improvement.

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Figure 1: Anatomy of an EQA scheme.
Figure 2: Incorrect genotypes in the European EQA scheme for cystic fibrosis.
Figure 3: Effect of the introduction of a reference standard.
Figure 4: Model pathway to CMGS/EMQN best practice guidelines.
Figure 5: Distribution of errors in laboratories from 1996 to 2000.

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Acknowledgements

We thank R. Elles for critical reading of the manuscript. EMQN is supported by the Standards Measurement and Testing programme of the European Union. The European Concerted Action on Cystic Fibrosis is supported by The EU Biomed Programme, and by contract under the EU Fifth Framework Programme.

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DATABASE LINKS

Cystic fibrosis

Haemophilia A

Factor V Leiden

CFTR

Duchenne muscular dystrophy

Fragile X syndrome

Sickle-cell disease

Huntington disease

Myotonic dystrophy

Prader–Willi

Angelman

Hereditary haemochromatosis

Multiple endocrine neoplasia type 2

ApoE4

FURTHER INFORMATION

European Molecular Genetics Quality Network

Clinical Molecular Genetics Society

UK National External Quality Assessment Scheme

European Cystic Fibrosis Network

College of American Pathologists

American College of Medical Genetics

The Council for Professions Supplementary to Medicine

National Center for Clinical Laboratory Standards

Human Genome Organization

American Society of Human Genetics

European Society of Human Genetics

Organization for Economic Cooperation and Development

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Dequeker, E., Ramsden, S., Grody, W. et al. Quality control in molecular genetic testing. Nat Rev Genet 2, 717–723 (2001). https://doi.org/10.1038/35088588

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