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.
the positive rate of WS diagnosis
the positive rate of LVAS diagnosis
gene diagnostic kit
Study Arms / Comparison Groups
Description: WS diagositic kit
* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.
Primary Completion Date
- Clinical diagnosis of Waardenburg syndrome
- Clinical diagnosis of large vestibular aqueduct syndrome
- Could not be able to exsanguinate