Test & specimen information
Exome sequencing
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).
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.
We offer two test options:
- focused exome (1-400 genes)
- comprehensive exome (> 400 genes +/- Mendeliome)
Testing can be upgraded to a RAPID turnaround time of 15 working days for an additional + $1000 per case.
Test type
Exome sequencing
Turnaround time
Trio: 8-10 weeks
Singleton: 4-6 months