Development and Clinical Application of Two New Genetic Deafness Gene Diagnostic Kit
- Conditions
- Waardenburg SyndromeLarge Vestibular Aqueduct Syndrome
- Interventions
- Device: gene diagnostic kit
- Registration Number
- NCT02418936
- Lead Sponsor
- Xiangya Hospital of Central South University
- Brief Summary
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.
- Detailed Description
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.
Recruitment & Eligibility
- Status
- UNKNOWN
- Sex
- All
- Target Recruitment
- 100
- Clinical diagnosis of Waardenburg syndrome
- Clinical diagnosis of large vestibular aqueduct syndrome
- Could not be able to exsanguinate
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description WS gene diagnostic kit WS diagositic kit LVAS gene diagnostic kit LVAS diagositic kit
- Primary Outcome Measures
Name Time Method the positive rate of WS diagnosis two years
- Secondary Outcome Measures
Name Time Method the positive rate of LVAS diagnosis two years
Trial Locations
- Locations (1)
Xiangya Hospital
🇨🇳Changsha, Hunan, China