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.
Parents of an affected child $250
Carrier testing for known mutation $250
Victorian Patients Only: State funding for testing high risk patients (diagnostic and prenatal) and carrier testing for parents of an affected child.
4 - 6 weeks (Diagnostic, Carrier)
4 days - 3 weeks (Prenatal)
Adult: 1 x 2-4 ml EDTA blood
Child: 1 x 1-2 ml EDTA blood
Amniotic Fluid 20ml
Chorionic Villus 20mg
Blood Storage Requirements: Do not freeze. Store at 4°C or room temperature.