Deafness Gene Panel
Test Overview:
The Deafness Gene Panel is a genetic test used to identify disease-causing variants in genes associated with inherited hearing loss and deafness. It can help determine the genetic cause of congenital, childhood-onset, or progressive hearing impairment.
Indications:
- Congenital or early-onset hearing loss
- Progressive or unexplained hearing loss
- Family history of hereditary deafness
- Hearing loss associated with other clinical features
- Evaluation of suspected syndromic or non-syndromic hearing loss
- Genetic counseling and family risk assessment
Sample Type:
EDTA Whole Blood
Method:
Next-Generation Sequencing (NGS), with variant analysis and interpretation. Depending on the panel, deletion/duplication analysis may also be performed.
Test Includes:
Analysis of multiple genes known to be associated with hereditary hearing loss, including genes involved in both syndromic and non-syndromic forms of deafness.
Clinical Significance:
Identification of a pathogenic or likely pathogenic genetic variant may help establish the cause of hearing loss, guide genetic counseling, assess recurrence risk, and support appropriate clinical management.
Result Interpretation:
Results may be reported as pathogenic, likely pathogenic, variant of uncertain significance (VUS), or no clinically significant variant detected. Genetic counseling may be recommended for interpretation of significant findings.
