Quality control in molecular genetic testing

Nature Reviews Genetics

Volumn 2, Issue 9, 2001, Pages 717-723

  Dequeker, Elisabeth ^a   Ramsden, Simon ^b   Grody, Wayne W ^c   Stenzel, Timothy T ^d   Barton, David E ^e  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b ST MARY S HOSPITAL   (United Kingdom)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d DUKE UNIVERSITY MEDICAL CENTER   (United States)

^e UNIVERSITY COLLEGE DUBLIN   (Ireland)

Author keywords

[No Author keywords available]

Indexed keywords

ACCREDITATION; ARTICLE; EUROPEAN UNION; GENETIC DISORDER; GENETIC SCREENING; GENETICS; HUMAN; LABORATORY; QUALITY CONTROL; STANDARD; UNITED KINGDOM; UNITED STATES;

ACCREDITATION; EUROPEAN UNION; GENETIC DISEASES, INBORN; GENETIC SCREENING; GREAT BRITAIN; HUMANS; LABORATORIES; QUALITY CONTROL; UNITED STATES;

EID: 0035463810     PISSN: 14710056     EISSN: None     Source Type: Journal    
DOI: 10.1038/35088588     Document Type: Article

References (21)

1. Harris, R. & Reid, M. Medical genetic services in 31 countries: an overview. Eur. J. Hum. Genet. 5, S3-S21 (1997).
2. McGovern, M., Benach, M. O., Wallenstein, S., Desnick, R. J. & Keenlyside, R. Quality assurance in molecular genetic testing laboratories. J. Am. Med. Assoc. 281, 835-840 (1999).
3. Holtzman, N. A. & Watson, M. S. (eds) Task Force on Genetic Testing: Promoting Safe and Effective Genetic Testing in the United States (Johns Hopkins Univ. Press, Baltimore, Maryland, 1997).
4. Prence, E. M. A practical guide to the validation of genetic tests. Genetic Testing 3, 201-206 (1999).
5. Losekoot, M., Bakker, B., Laccone, F., Stenhouse, S. & Elles, R. A. European pilot quality assessment scheme for molecular diagnosis of Huntington's disease. Eur. J. Hum. Genet. 7, 217-222 (1999).
6. Holtzman, N. A. & Shapiro, D. Genetic testing and public policy. Br. Med. J. 14, B52-856 (1998).
7. Jeffrey, G. P., Chakrabarti, S., Hegele, R. A. & Adams, P. C. Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis. Nature Genet. 22, 325-326 (1999).
8. Kubota, T. et al. Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome. Am. J. Med. Genet. 66, 77-80 (1996).
9. Rowland, J. S., Barton, D. E., Taylor, G. R. & the UK Clinical Molecular Genetics Society HMSN Project Group. A comparison of methods for gene dosage analysis in HMSN type 1. J. Med. Genet. 38, 90-95 (2001).
10. Directive 98/79/EC of the European Parliament and of the Council of 27 October 1998 on in vitro diagnostic medical devices. Official J. L331, 1-37 (1998).
11. Cummings, C. J. & Zoghbi, H. Y. Fourteen and counting: unravelling trinucleotide repeat diseases. Hum. Mol. Genet. 9, 909-916 (2000).
12. Bruland, O. et al. Accurate determination of the number of CAG repeats in the Huntington disease gene using a sequence-specific internal DNA standard. Clin. Genet. 55, 198-202 (1999).
13. Patton, S., Barton, D. & Elles, R. Retaining the confidence of the public in molecular genetic testing -quality assurance. Commun. Genet. 3, 164-169 (2000).
14. Dequeker, E. et al. Recommendations for quality improvement in genetic testing for cystic fibrosis. European Concerted Action on Cystic Fibrosis. Eur. J. Hum. Genet. 8, S2-S24 (2000).
15. Watson, M. S. (ed.) Standards and Guidelines: Clinical Genetics Laboratories 2nd edn (American College of Medical Genetics, 1999). Available at http://www.faseborg/genetics/acmg/stds/copyrite.htm
16. NCCLS. Molecular Diagnostic Methods for Genetic Diseases: Approved Guidelines. NCCLS Document MM1-A (NCCLS, Wayne, Pennsylvania, 2000).
17. Schwartz, M. K. Genetic testing and the clinical laboratory improvement amendments of 1988: present and future. Clin. Chem. 45, 739-745 (1999).
18. Dequeker, E. & Cassiman, J. J. Evaluation of CFTR gene mutation testing methods in 136 diagnostic laboratories: report of a large European external quality assessment. Eur. J. Hum. Genet. 6, 165-175 (1998).
19. Dequeker, E. & Cassiman, J. J. Genetic testing and quality control in diagnostic laboratories. Nature Genet. 25, 259-260 (2000).
20. Grody, W. W., Desnick, R. J., Carpenter, N. J. & Noll, W. W. Diversity of cystic fibrosis mutation - screening practices. An. J. Hum. Genet. 62, 1252-1254 (1998).
21. Grody, W. W. et al. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet. Med. 3, 149-154 (2001).