Clinical genomics (Translational Genomics Unit)

Clinical genomics (Translational Genomics Unit - TGU)

Additional tests such as [respiratory chain enzyme testing](/tests/mito-respiratory-chain/) and deletion and duplication [quantitative testing](/tests/mito-quantitative/) may be ordered. 
Please contact us to request this testing. 

For urgent cases, we offer a rapid TAT of 3 weeks. 

For known familial mitochondrial DNA variants, prenatal diagnosis may be available via the whole mtDNA genome NGS analysis. 
Please contact the laboratory to discuss prenatal testing prior to arranging test.

**Cost**  
add $200 if maternal sample included  
add $350 per additional sample type or additional patient sample 

Rapid: $2500

### Familial variant testing  

- $700 - per variant identified by VCGS  

- $800 - per variant identified by external lab

Amplicon based, high coverage next generation sequencing (NGS) provides sensitive analysis of mtDNA. This assay detects any heteroplasmic or homoplasmic single nucleotide variant (SNV) as well as large deletions in a single assay. 

Note: heteroplasmy levels of large deletions are an estimate only, they cannot be accurately determined due to inherent PCR bias. 

This assay is not validated for the detection of large duplications. 

For urgent clinical cases, a RAPID turnaround time of 3 weeks is available (additional cost).

NOTE: Medicare-funded testing under MBS Item Numbers [73456](https://www9.health.gov.au/mbs/fullDisplay.cfm?type=item&q=73456) (singleton) and [73457](https://www9.health.gov.au/mbs/fullDisplay.cfm?type=item&q=73457) (trio) is now being offered at VCGS. Please see our [Mitochondrial diseases](/tests/mitochondrial-diseases) page for further details.