Clinical Application of DNA microarray in rapid genetic diagnosis of non-syndromic heaing loss
WANG Guojian
ZHANG Guanbin
YUAN Yongyi
HUANG Shasha
LI Yuanyuan
KANG Dongyang
CHENG Jing
DAI Pu
Abstract：Objectives To verify the clinical validity and accuracy of DNA microarray kit for genetic testing of 15 target deafness mutations. Methods The whole blood samples from 420 outpatients or inpatients with or without deafness were test-ed using sequencing and DNA microarray kit which is authenticated by SFDA. Among them, 103 cases were wild type and 317 cases carrying mutations including 50 enlarged vestibular aqueduct syndrome (EVAS) patients. Results The sensitivity and specificity of the microarray reaches 100%, and the consistency of that with the control methods keeps 100%,χ2 test and Kap-pa shows no significant difference between them and confirms its perfect consistency. Conclusion The DNA microarray kit for genetic testing of 15 target deafness mutations has the features of high performance and clinical validity, which makes it fit to be used in clinic gene testing. Because of its higher positive detection rate, and therefore it has advantage in genetic diagnosis of EVAS patients.
Keywords：DeafnessMutationDNA microarrayGenetic Testing
Publication Date：2014-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 6-10 )