Overview

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.

Review of previously classified variants:

When additional evidence from the scientific literature or extra family history information becomes available, review of previously classified variants may be requested. For variant(s) previously reported by VCGS, this involves review, curation, reinterpretation and reporting. For variant(s) identified by another laboratory, new full curation, classification and reporting will be provided.

Cost

Familial variant testing/parental segregation - Sanger sequencing

Sanger sequencing of one or more sequence variants previously identified in a family member:

  • $340/variant/patient: variant(s) in proband identified by VCGS
  • $440*/variant/patient: variant (s) in proband identified by another laboratory

*applies for first patient only- all subsequent tests for the same variant will be $340/patient

Custom designed assays for targeted variant testing

Custom designed assays for variants not amenable to Sanger sequencing are available via Long-range PCR or Real-time PCR technology.
Please contact us on [email protected] to confirm test set-up is possible for the specific mutation type.

  • $770/variant: for variant identified by VCGS
  • $870/variant: for variant identified by another laboratory

Review of previously classified variants

  • $300/variant: original VCGS reported variants

Note: if classification of a variant changes as a result of review, any family members who were previously issued with cascade testing reports will have reports re-issued to the original referring clinician at no charge.

  • $350/variant: reported by other laboratories (research or clinical)

Contacts

P: 1300 118 247
E: [email protected]