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
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
收藏
页码:717 / 723
页数:7
相关论文
共 22 条
[1]  
[Anonymous], OFFICIAL J L
[2]   Accurate determination of the number of CAG repeats in the Huntington disease gene using a sequence-specific internal DNA standard [J].
Bruland, O ;
Almqvist, EW ;
Goldberg, YP ;
Boman, H ;
Hayden, MR ;
Knappskog, PM .
CLINICAL GENETICS, 1999, 55 (03) :198-202
[3]   Fourteen and counting: unraveling trinucleotide repeat diseases [J].
Cummings, CJ ;
Zoghbi, HY .
HUMAN MOLECULAR GENETICS, 2000, 9 (06) :909-916
[4]   Evaluation of CFTR gene mutation testing methods in 136 diagnostic laboratories:: report of a large European external quality assessment [J].
Dequeker, E ;
Cassiman, JJ .
EUROPEAN JOURNAL OF HUMAN GENETICS, 1998, 6 (02) :165-175
[5]   Genetic testing and quality control in diagnostic laboratories [J].
Dequeker, E ;
Cassiman, JJ .
NATURE GENETICS, 2000, 25 (03) :259-260
[6]  
DEQUEKER E, 1998, EUR J HUM GENET, V14, P852
[7]   Diversity of cystic fibrosis mutation-screening practices [J].
Grody, WW ;
Desnick, RJ ;
Carpenter, NJ ;
Noll, WW .
AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (05) :1252-1254
[8]   Cystic fibrosis population carrier screening: Here at last-Are we ready? [J].
Grody, WW ;
Desnick, RJ .
GENETICS IN MEDICINE, 2001, 3 (02) :87-90
[9]  
Harrington JC, 1997, HIST ARCHAEOL, V31, P5
[10]  
HOLTZMAN NA, 1997, TASK FORCE GENETIC T