NCT02418936

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

Development and Clinical Application of Two New Genetic Deafness Gene

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 100 (estimated)
• Sponsor: Xiangya Hospital of Central South University · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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.

Conditions

• Waardenburg Syndrome
• Large Vestibular Aqueduct Syndrome

Interventions

Type	Name	Description
DEVICE	gene diagnostic kit

Timeline

• Start date: 2015-01-01
• Primary completion: 2017-10-01
• Completion: 2017-12-01
• First posted: 2015-04-17
• Last updated: 2015-04-17

Locations

1 site across 1 country: China