Quality control in molecular genetic testing

被引：89

作者：

Dequeker, E

Ramsden, S

Grody, WW

Stenzel, TT

Barton, DE ^{[1
]}

机构：

[1] Univ Coll Dublin, Our Ladys Hosp Sick Children, Natl Ctr Med Genet, Dublin 12, Ireland

[2] Univ Coll Dublin, Our Ladys Hosp Sick Children, Dept Med Genet, Dublin 12, Ireland

[3] Katholieke Univ Leuven, Dept Human Genet, European Themat Network Cyst Fibrosis, B-3000 Louvain, Belgium

[4] Katholieke Univ Leuven, Dept Human Genet, EMQN, European Mol Genet Qual Network, B-3000 Louvain, Belgium

[5] St Marys Hosp, Reg Mol Genet Lab, UK Neqas Mol Genet, Manchester M13 0JH, Lancs, England

[6] Univ Calif Los Angeles, Sch Med, Div Med Genet, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA

[7] Univ Calif Los Angeles, Sch Med, Div Med Genet, Dept Pediat, Los Angeles, CA 90095 USA

[8] Univ Calif Los Angeles, Sch Med, Div Mol Pathol, Dept Pediat, Los Angeles, CA 90095 USA

[9] Univ Calif Los Angeles, Sch Med, Div Mol Pathol, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA

[10] Duke Univ, Med Ctr, Dept Pathol, Durham, NC 27710 USA

来源：

NATURE REVIEWS GENETICS | 2001年 / 2卷 / 09期

关键词：

D O I：

10.1038/35088588

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：717 / 723

页数：7

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