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.

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)

Genomic sequencing