Whole genome sequencing
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).