Losekoot M, Bakker B, Laccone F, Stenhouse S, Elles R
MGC-Department of Human Genetics, Leiden University Medical Centre, The Netherlands.
Eur J Hum Genet. 1999 Feb-Mar;7(2):217-22. doi: 10.1038/sj.ejhg.5200252.
This paper reports a European pilot External Quality Assessment (EQA) scheme for the molecular diagnosis of Huntington's disease (HD). The European Molecular Genetics Quality Network (EMQN) chose HD as a relatively simple assay that allows a range of difficulty in terms of technical competence and interpretation. Fourteen centres from 12 different countries participated. The scheme organiser provided five cases together with mock clinical information. The participating laboratories were asked to complete the analyses and return the reports in English to their normal laboratory format within a fixed period. The scheme demonstrates a level of potential misdiagnosis in molecular analysis of HD as well as a wide variety in way of reporting laboratory results. Overall 9/146 (6.2%) of alleles fell outside the set limits, and the rate of misdiagnosis was 1/78 (1.3%). A closer estimate of diagnostic accuracy will require expansion of the scheme.
本文报道了一项针对亨廷顿舞蹈症（HD）分子诊断的欧洲试点外部质量评估（EQA）计划。欧洲分子遗传学质量网络（EMQN）选择HD作为一项相对简单的检测项目，该项目在技术能力和解读方面存在一定难度范围。来自12个不同国家的14个中心参与其中。计划组织者提供了5个病例以及模拟临床信息。要求参与实验室完成分析，并在规定时间内以英文将报告返回至其正常实验室格式。该计划表明在HD分子分析中存在一定程度的潜在误诊，以及报告实验室结果的方式存在很大差异。总体而言，146个等位基因中有9个（6.2%）超出设定范围，误诊率为1/78（1.3%）。要更精确地估计诊断准确性，需要扩大该计划。
