Clinical exome sequencing is used to investigate complex health and developmental problems. It’s often used by specialist groups, such as geneticists and neurologists, to investigate specific causes of well-known, but poorly understood conditions (like intellectual disability or brain malformations).
VCGS offers a small, medium and a comprehensive exome.
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.
|Clinical exome test options||Description||Price (AUD$ ex GST)|
|exome-small singleton||1-100 genes||$1400|
|exome-medium singleton||101-400 genes||$2000|
|exome-comprehensive singleton||>400 genes +/- Mendeliome||$3100|
|Trio (2 parents + child)||Available for comprehensive exome only||$4100|
|Rapid trio or singleton||15 working days turnaround time||+ $1000 per case|
|Re-analysis||existing gene list(s)||+ $350 per case|
|Upgrade option||upgrade to larger exome option||*Gap + $350 per case|
*Gap = price difference between original test option and upgraded exome test option
Our comprehensive service offers flexibility in testing and a turnaround time of 3-4 months. However, this service cannot be bulk billed.
Comprehensive exome service - 3-4 months
- EDTA blood: Adult - 5ml; Child - 1-3ml
- Saliva: saliva kits are available through VCGS
- DNA extracted from EDTA blood in a NATA accredited clinical laboratory
Please contact us with regard to prenatal diagnosis samples (i.e amnio and CVS)