Exome (clinical)
Overview
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.
Category
Cost
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) | + $425 per case |
Upgrade option | upgrade to larger exome option | *Gap + $425 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.
Reporting time
Comprehensive exome service - 3-4 months
Contacts
P: 1300 11 8247
E: [email protected]
Specimen Requirements
- 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)