Development and Clinical Application of Two New Genetic Deafness Gene Diagnostic Kit

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.

Inclusion Criteria:

• Clinical diagnosis of Waardenburg syndrome
• Clinical diagnosis of large vestibular aqueduct syndrome

Exclusion Criteria:

• Could not be able to exsanguinate