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

Central South University

Status: Unknown

Conditions: Waardenburg Syndrome; Large Vestibular Aqueduct Syndrome

Treatments: Device: gene diagnostic kit

Study type: Observational

Funder types: Other

Identifiers

NCT02418936

2014L01

Details and patient eligibility

About

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 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.

Enrollment: 100 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• Clinical diagnosis of Waardenburg syndrome
• Clinical diagnosis of large vestibular aqueduct syndrome

Exclusion criteria

• Could not be able to exsanguinate

Trial design

100 participants in 2 patient groups

WS

Description:

WS diagositic kit

Treatment:

Device: gene diagnostic kit

LVAS

Description:

LVAS diagositic kit

Treatment:

Device: gene diagnostic kit