Overview

Nonsyndromic hearing loss is a partial or total loss of hearing that is not associated with other signs and symptoms. Nonsyndromic hearing loss can be caused by alterations in over 90 genes however the most commonly associated genes are GJB2 and GJB6 genes. The GJB2 and GJB6 genes provides instructions for making the connexin 26 and connexin 30 proteins respectively. Alterations in the GJB2 or GJB6 gene change their connexin proteins, which may affect the function or survival of cells that are needed for hearing.

Category

Cost

Diagnostic $350

Parents of an affected child $250

Carrier testing for known mutation $250

Prenatal $600

Victorian Patients Only: State funding for testing high risk patients (diagnostic and prenatal) and carrier testing for parents of an affected child.

Reporting time

4 - 6 weeks (Diagnostic, Carrier)

4 days - 3 weeks (Prenatal)

Contacts

Dr Belinda Chong

Phone (03) 9936 6550

Specimen Requirements

Adult: 1 x 2-4 ml EDTA blood

Child: 1 x 1-2 ml EDTA blood

Prenatal:

Amniotic Fluid 20ml

Chorionic Villus 20mg

Notes

Blood Storage Requirements: Do not freeze. Store at 4°C or room temperature.

Genes tested