上海地区遗传性耳聋基因检测室间质量评价
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摘要
目的通过开展遗传性耳聋基因检测室间质量评价(EQA),评估上海地区临床实验室遗传性耳聋基因检测能力,以提高检测质量。方法 2017年EQA共涉及4个耳聋相关基因的9个突变位点,样本盘包含5个样本,样本类型为干血斑。要求参评实验室收到样本后在规定时间内检测并上报检测结果。计算各实验室成绩、不同样本的总体符合率及不同检测方法的符合率,统计检测错误类型。结果共收到18份有效回报结果。77.78%的实验室回报结果完全正确,5.56%的实验室出现错误结果但总成绩合格,16.67%的实验室成绩不合格。阴性样本(野生型样本)的检测符合率为100%,阳性样本(突变型样本)的检测符合率为93.59%。共出现检测错误10个,错误类型集中表现为假阴性。结论上海地区临床实验室遗传性耳聋基因检测总体准确率较高,质量控制对于保证检测结果的准确性具有十分重要的作用。
Objective To evaluate the performance of hereditary deafness genetic testing in external quality assessment(EQA) program of Shanghai. Methods In 2017 EQA program, 9 loci on 4 different genes were investigated. The sample panel consisted of 5 different dry blood spots. Participating laboratories were asked to report the results before deadlines. The scores of laboratories were calculated, and the overall consistency rates of different loci as well as different methods and reagents were calculated, and error sorting was evaluated. Results Totally,18 valid laboratory results were received,and 77.78% laboratories submitted correct results for all samples,5.56% laboratories reported with errors but were overall qualified, and 16.67% laboratories reported with errors and were overall unqualified. The consistency rate was 100% for negative samples(wild type samples) and93.59% for positive samples(mutant samples). There were 10 error results,all of which were false negative.Conclusions The overall accuracy rate of clinical laboratories enrolled in the program of Shanghai is high. Quality controls in clinical laboratories is essential to assure the accuracy of results.
Objective To evaluate the performance of hereditary deafness genetic testing in external quality assessment(EQA) program of Shanghai. Methods In 2017 EQA program, 9 loci on 4 different genes were investigated. The sample panel consisted of 5 different dry blood spots. Participating laboratories were asked to report the results before deadlines. The scores of laboratories were calculated, and the overall consistency rates of different loci as well as different methods and reagents were calculated, and error sorting was evaluated. Results Totally,18 valid laboratory results were received,and 77.78% laboratories submitted correct results for all samples,5.56% laboratories reported with errors but were overall qualified, and 16.67% laboratories reported with errors and were overall unqualified. The consistency rate was 100% for negative samples(wild type samples) and93.59% for positive samples(mutant samples). There were 10 error results,all of which were false negative.Conclusions The overall accuracy rate of clinical laboratories enrolled in the program of Shanghai is high. Quality controls in clinical laboratories is essential to assure the accuracy of results.
引文
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[3]韩明昱,戴朴.我国耳聋基因诊断的临床应用进展[J].北京医学,2011,33(5):419-421.
[4]封纪珍,李天洁,肖会者.5 018例新生儿耳聋基因检测结果分析[J].临床儿科杂志,2015,33(2):196-197.
[5]周怡,刘海红,郝津生,等.15 343例新生儿耳聋基因普遍筛查结果分析[J].中国听力语言康复科学杂志,2014,12(2):109-112.
[6]王秋菊,赵亚丽,兰兰,等.新生儿聋病基因筛查实施方案与策略研究[J].中华耳鼻咽喉头颈外科杂志,2007,42(11):809-813.
[7]杜亚婷,崔庆佳,黄丽辉.耳聋基因检测技术的临床应用进展[J].临床耳鼻咽喉头颈外科杂志,2016,30(8):667-670.
[8]王薇,钟堃,何法霖,等.新生儿遗传性耳聋基因检测室间质量调查结果分析[J].中华医学杂志,2015,95(4):269-272.
[9]RUBIN E M,胡乃东.干血斑的DNA分析用于新生儿筛查[J].国外医学遗传学分册,1990,13(2):88-90.
[10]BAKKER E.Is the DNA sequence the gold standard in genetic testing?Quality of molecular genetic tests assessed[J].Clin Chem,2006,52(4):557-558.
[11]鲍芸,肖艳群,蒋玲丽,等.上海地区氯吡格雷药物代谢基因检测室间质量评价[J].检验医学,2017,32(3):229-233.
[12]LIN G,YI L,ZHANG K,et al.Improvements in CYP2C9 genotyping accuracy are needed:a report of the first proficiency testing for warfarin-related CYP2C9 and VKORC1 genotyping in China[J].J Cardiovasc Pharmacol,2015,66(2):129-134.
[13]戴朴,刘新,于飞,等.18个省市聋校学生非综合征性聋病分子流行病学研究(Ⅰ)-GJB2 235delC和线粒体DNA 12SrRNA A1555G突变筛查报告[J].中华耳科学杂志,2006,4(1):1-5.