Large Vestibular Aqueduct Syndrome Clinical Trial
Official title:
Development and Clinical Application of Two New Genetic Deafness Gene
The purpose of this study is to develop and applicate two new genetic deafness gene diagnostic kit for Waardenburg syndrome and large vestibular aquduct syndrome.
1. For the pathogenic gene of Waardenburg syndrome and large vestibular aqueduct syndrome,
based on the second-generation sequencing technology, the investigators develop
multiplex PCR system for these two hereditary deafness gene diagnostic kit.
2. Using CNVplex high-throughput gene copy number detection technology to analyse
Warrdenburg syndrome pathologic gene. CNVs analysis for Warrdenburg deafness syndrome
develop special testing system / kit achieve SNP / CNVs detected simultaneously, as a
supplementary means of genetic testing in clinical deafness.
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Observational Model: Case-Only