Overview

Depending upon the patient’s clinical presentation, VCGS offers a number of different genome test options including:

  • small genome
  • medium genome
  • comprehensive genome

Analysis is phenotype driven and relies in the first instance on targeting genes specific to the phenotype. Please refer to PanelApp Australia for a comprehensive list of the pre-curated phenotype specific gene panels maintained by VCGS.

For Comprehensive analysis, analysis can be expanded to the ~4,000 genes in the Mendeliome* should no variants of interest be identified in the initial gene panels.

*Mendeliome : ~4,000 genes (out of about 20,000) protein coding genes that are known to be associated with monogenic disease.

Analysis of WGS data includes the detection of deletions or duplications, also known as copy number variants (CNV).

Category

Cost

WGS test options Description Price (AUD$ ex GST)

WGS-small singleton

1-100 genes $2400
WGS-medium singleton 101-400 genes $3000
WGS-comprehensive singleton >400 genes +/- Mendeliome $4300
Trio (2 parents + child) Available for comprehensive WGS only $7400
Rapid trio or singleton 15 working days turnaround time + $1500 per case
Re-analysis existing gene list(s) + $350 per case
Upgrade option upgrade to larger WGS option *Gap + $350 per case


*Gap = price difference between original test option and upgraded WGS test option

Reporting time

3-4 months

Contacts

P: 1300 118 247
E: [email protected]

Specimen Requirements

EDTA blood:

Adult: 5 ml
Child: 1-3 ml

Please contact us with regard to using extracted DNA and prenatal diagnosis samples (i.e amnio and CVS).