VCGS provides a range of family and confirmatory genetic testing services.

Familial variant testing:

Testing of individuals for one or more variants previously identified in a family member is available.

It is important to include a number of details with the test request including: the variant(s) to be tested, the relationship of the individual to the proband and whether they are affected by the condition or not. If the proband was originally tested by another laboratory, please also send a sample from the proband (positive control) along with a copy of the original testing report.

Familial variant testing may be arranged for a number of purposes:

  • Parental segregation studies - often performed to determine the inheritance pattern of a variant (e.g. dominant, recessive or de novo), or to help establish pathogenicity of a variant of uncertain significance (VUS). It's performed by testing the biological parents of the proband (the first person tested), or other affected family members.
  • Segregation in other affected family members - testing for variants previously identified in another affected family member, for example a sibling or cousin, can be arranged to help diagnose a condition in the individual or establish the inheritance pattern or pathogenicity of the variant(s).
  • Carrier testing - where an individual is a carrier of a recessive or X-linked condition, or has a known pathogenic variant that causes a disease, carrier testing of family members is available. This information can be useful for biological relatives. For example:
    • Knowledge of carrier status can inform reproductive planning.
    • Knowledge of a known pathogenic variant may allow for modification of disease onset or severity.

Predictive genetic testing:

Predictive testing is available for asymptomatic individuals who are at increased risk of certain genetic conditions due to their family history. Please note that patients must be referred for genetic counselling prior to arranging predictive genetic testing.

Reproductive carrier screening:

VCGS offers reproductive carrier screening for the three most common inherited conditions: cystic fibrosis, fragile X syndrome and spinal muscular atrophy. In addition, we also offer expanded carrier screening for over 250 recessive and X-linked conditions.

Confirmation of research findings:

VCGS offers confirmatory and diagnostic testing for gene variants identified during research investigation. This includes confirmation of the variant in the proband. Carrier and prenatal testing may be available following confirmation of results.

Please contact us to discuss your specific requirements.


P: 1300 118 247
E: [email protected]