Mutation detection, interpretation, and applications in the clinical laboratory setting

被引：12

作者：

Strom, CM ^{[1
]}

机构：

[1] Quest Diagnost Nichols Inst, Genet Testing Ctr, San Juan Capistrano, CA 92690 USA

来源：

MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS | 2005年 / 573卷 / 1-2期

关键词：

laboratory; mutation detection; positive mutation analysis;

D O I：

10.1016/j.mrfmmm.2004.09.017

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

Mutation detection plays an increasingly significant role in clinical diagnostic testing, posing formidable challenges for laboratories. The expanding indications for clinical molecular testing and the nuances of interpreting test results are discussed. Methods for screening mutation detection platforms and monitoring assay reliability are presented, and results of platform comparisons are described. The potential for irrevocable medical interventions following a positive mutation analysis is highlighted to stress the imperative for accuracy in mutation detection and vigilance in the clinical arena. (c) 2005 Elsevier B.V. All rights reserved.

引用

页码：160 / 167

页数：8

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