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. VCGS offers diagnostic, prenatal and carrier testing.
- Diagnostic testing: $520
- Testing for symptomatic patients
- State funding is available for Victorian patients.
- Carrier Testing: $340
- Testing for a known family variant
- State funding available for Victorian parents of an affected child only.
- Partner screening: $520
- Testing for asymptomatic partners, with no known family variant, whose partner is a known carrier.
- Prenatal testing
*Please note: GJB6 gene analysis is only performed when a single variant in the GJB2 gene is identified, or if the family is consanguineous.
Diagnostic & carrier testing: 8-12 weeks
Prenatal testing: 4 days - 3 weeks
- Adult: 2-4 ml
- Child: 1-2 ml
Saliva sample - saliva collection kits are available trough VCGS.
- Amniotic fluid 20ml
- Chorionic villus 20mg
Blood Storage Requirements: Do not freeze. Store at 4°C or room temperature.