Large Vestibular Aqueduct Syndrome, Waardenburg Syndrome
Conditions
Keywords
Waardenburg syndrome, Large vestibular aqueduct syndrome, Diagnosis, copy number variation, Multiplex polymerase chain reaction
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.
Interventions
DEVICEgene diagnostic kit
Sponsors
Xiangya Hospital of Central South University
Study design
Observational model
CASE_ONLY
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* Clinical diagnosis of Waardenburg syndrome * Clinical diagnosis of large vestibular aqueduct syndrome
Exclusion criteria
* Could not be able to exsanguinate
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| the positive rate of WS diagnosis | two years |
Secondary
| Measure | Time frame |
|---|---|
| the positive rate of LVAS diagnosis | two years |
Countries
China
Contacts
Primary ContactYuxiang Cai, MD
Backup ContactYalan Liu, PhD
Outcome results
None listed