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) + $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 it 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)