Clinical genomics (Translational Genomics Unit)

Clinical genomics (Translational Genomics Unit - TGU)

The high coverage whole mitochondrial genome (mtDNA) analysis (NGS) option replaces the previous limited common mitochondrial mutation panel in 2020. 

There are a range of testing options for mitochondrial analysis. 

### First-line testing

| Test option | Cost (rapid TAT) | |
|------------------------------------------------------------------------------------------------------------------|------------------|-------------------------------|
| [Whole mitochondrial genome](/tests/mito-DNA/) (mtDNA) analysis (NGS) | $1200 ($2500*) | Mitochondrial genes |
| [Exome sequencing](/tests/exome-sequencing/) (focused exome applying Mitochondrial disease panel) | $1800 ($2800) | Nuclear genes |
| [Whole genome sequencing](/tests/mito-wgs/) (WGS) (comprehensive WGS) | $4300 ($5800) | Nuclear + mitochondrial genes |

:footnote[*RAPID mtDNA – recommended to include proband blood where possible as control sample, included in price.]
:footnote[Prenatal - please contact us to discuss testing prior to arranging with patient. Patient to be referred to a genetics clinic for prenatal testing (requirements: mother to have been tested previously or simultaneously via NGS assay for mutant load).]


### Additional testing

| Test option | Cost | |
|------------------------------------------------------------------------------------------------------------------|------------------|-------------------------------|
| [Quantitative testing](/tests/mito-quantitative/) mtDNA | Contact lab for price | Deletion quantitation (Q-PCR) Depletion quantitation (Q-PCR) |
| [Respiratory chain enzymes](/tests/mito-respiratory-chain/) | $1130 (Skel & cardiac muscle & liver) $1525 (^cell lines) | |
:footnote[^Skin fibroblast and transformed lymphoblast cells are suitable only in certain circumstances.]

For familial variant testing of mitochondrial variants, please see [cascade and family testing](/tests/cascade-family-testing/) page.