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

Overview

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.

Full Title of Study: “Development and Clinical Application of Two New Genetic Deafness Gene”

Study Type

  • Study Type: Observational
  • Study Design
  • Study Primary Completion Date: October 2017

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.

Interventions

  • Device: gene diagnostic kit

Arms, Groups and Cohorts

  • WS
    • WS diagositic kit
  • LVAS
    • LVAS diagositic kit

Clinical Trial Outcome Measures

Primary Measures

  • the positive rate of WS diagnosis
    • Time Frame: two years

Secondary Measures

  • the positive rate of LVAS diagnosis
    • Time Frame: two years

Participating in This Clinical Trial

Inclusion Criteria

  • Clinical diagnosis of Waardenburg syndrome – Clinical diagnosis of large vestibular aqueduct syndrome Exclusion Criteria:
  • Could not be able to exsanguinate
  • Gender Eligibility: All

    Minimum Age: N/A

    Maximum Age: N/A

    Are Healthy Volunteers Accepted: No

    Investigator Details

    • Lead Sponsor
      • Xiangya Hospital of Central South University
    • Provider of Information About this Clinical Study
      • Sponsor
    • Overall Contact(s)
      • Yuxiang Cai, MD, +86 13755132428, caiyx_bb@163.com

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