External quality assessment for the results of hereditary deafness genetic testing in Shanghai

doi:10.3969/j.issn.1673-8640.2019.03.018

Abstract

Abstract:

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） and 93.59% 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.

Key words: Hereditary deafness, Genetic testing, External quality assessment

CLC Number:

R446.1

BAO Yun, XIAO Yanqun, JIANG Lingli, WANG Xueliang, YANG Yixiao, WANG Hualiang. External quality assessment for the results of hereditary deafness genetic testing in Shanghai[J]. Laboratory Medicine, 2019, 34(3): 267-270.

Figures/Tables 1

References 13

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检测位点	1721		1722		1723		1724		1725
检测位点	靶值	符合率（%）	靶值	符合率（%）	靶值	符合率（%）	靶值	符合率（%）	靶值	符合率（%）
GJB2 35delG （rs80338939）	杂合突变型	93.33	野生型	100.00	野生型	100.00	野生型	100.00	野生型	100.00
GJB2 176del16 （rs750188782）	杂合突变型	88.89	野生型	100.00	野生型	100.00	野生型	100.00	野生型	100.00
GJB2 235delC （rs80338943）	杂合突变型	83.33	野生型	100.00	野生型	100.00	野生型	100.00	野生型	100.00
GJB2 299delAT （rs111033204）	杂合突变型	88.89	野生型	100.00	野生型	100.00	野生型	100.00	野生型	100.00
GJB3 538C>T （rs74315319）	野生型	100.00	野生型	100.00	野生型	100.00	野生型	100.00	杂合突变型	100.00
线粒体12SrRNA1494 C>T （rs267606619）	野生型	100.00	野生型	100.00	野生型	100.00	异质突变型	94.44	野生型	100.00
线粒体12SrRNA1555A>G （rs267606617）	野生型	100.00	野生型	100.00	野生型	100.00	异质突变型	94.44	野生型	100.00
SLC26A4 2168A>G （rs121908362）	野生型	100.00	野生型	100.00	野生型	100.00	野生型	100.00	野生型	100.00
SLC26A4 IVS7-2A>G （rs111033313）	野生型	100.00	野生型	100.00	野生型/杂合突变型	100.00	野生型	100.00	野生型	100.00

检测位点	1721		1722		1723		1724		1725
检测位点	靶值	符合率（%）	靶值	符合率（%）	靶值	符合率（%）	靶值	符合率（%）	靶值	符合率（%）
GJB2 35delG （rs80338939）	杂合突变型	93.33	野生型	100.00	野生型	100.00	野生型	100.00	野生型	100.00
GJB2 176del16 （rs750188782）	杂合突变型	88.89	野生型	100.00	野生型	100.00	野生型	100.00	野生型	100.00
GJB2 235delC （rs80338943）	杂合突变型	83.33	野生型	100.00	野生型	100.00	野生型	100.00	野生型	100.00
GJB2 299delAT （rs111033204）	杂合突变型	88.89	野生型	100.00	野生型	100.00	野生型	100.00	野生型	100.00
GJB3 538C>T （rs74315319）	野生型	100.00	野生型	100.00	野生型	100.00	野生型	100.00	杂合突变型	100.00
线粒体12SrRNA1494 C>T （rs267606619）	野生型	100.00	野生型	100.00	野生型	100.00	异质突变型	94.44	野生型	100.00
线粒体12SrRNA1555A>G （rs267606617）	野生型	100.00	野生型	100.00	野生型	100.00	异质突变型	94.44	野生型	100.00
SLC26A4 2168A>G （rs121908362）	野生型	100.00	野生型	100.00	野生型	100.00	野生型	100.00	野生型	100.00
SLC26A4 IVS7-2A>G （rs111033313）	野生型	100.00	野生型	100.00	野生型/杂合突变型	100.00	野生型	100.00	野生型	100.00

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