Brief Title
Development and Clinical Application of Two New Genetic Deafness Gene Diagnostic Kit
Official Title
Development and Clinical Application of Two New Genetic Deafness Gene
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.
Study Type
Observational
Primary Outcome
the positive rate of WS diagnosis
Secondary Outcome
the positive rate of LVAS diagnosis
Condition
Waardenburg Syndrome
Intervention
gene diagnostic kit
Study Arms / Comparison Groups
WS
Description: WS diagositic kit
Publications
* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.
Recruitment Information
Recruitment Status
Device
Estimated Enrollment
100
Start Date
January 2015
Completion Date
December 2017
Primary Completion Date
October 2017
Eligibility Criteria
Inclusion Criteria: - Clinical diagnosis of Waardenburg syndrome - Clinical diagnosis of large vestibular aqueduct syndrome Exclusion Criteria: - Could not be able to exsanguinate
Gender
All
Ages
N/A - N/A
Accepts Healthy Volunteers
No
Contacts
, +86 13755132428, [email protected]
Location Countries
China
Location Countries
China
Administrative Informations
NCT ID
NCT02418936
Organization ID
2014L01
Responsible Party
Sponsor
Study Sponsor
Xiangya Hospital of Central South University
Study Sponsor
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Verification Date
April 2015