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. VCGS offers diagnostic, prenatal and carrier testing.

Category

Cost

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

For non Victorian patients:

*Please note, GJB2 and GJB6 gene testing is simultaneous. Separate testing of these genes is unavailable.

Reporting time

Diagnostic & carrier testing: 8-12 weeks

Prenatal testing: 4 days - 3 weeks

Contacts

P: 1300 118 247
E: [email protected]

Specimen Requirements

EDTA blood:

  • Adult: 2-4 ml
  • Child: 1-2 ml

Saliva sample - saliva collection kits are available trough VCGS.

Prenatal:

  • Amniotic fluid 20ml
  • Chorionic villus 20mg

Notes

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

Genes tested