Mitochondrial analysis overview
Overview
There are a range of testing options for mitochondrial analysis.
NOTE: Medicare-funded testing under MBS Item Numbers 73456 (singleton) and 73457 (trio) is now being offered at VCGS. Please see our Mitochondrial diseases page for further details.
First-line testing
Test option | Cost (rapid TAT) | |
|---|---|---|
Whole mitochondrial genome (mtDNA) analysis (NGS) | $1200 ($2500*) | Mitochondrial genes |
Exome sequencing (focused exome applying Mitochondrial disease panel) | $1800 ($2800) | Nuclear genes |
Whole genome sequencing (WGS) (comprehensive WGS) | $4300 ($5800) | Nuclear + mitochondrial genes |
*RAPID mtDNA – recommended to include proband blood where possible as control sample, included in price. 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 mtDNA | Contact lab for price | Deletion quantitation (Q-PCR) Depletion quantitation (Q-PCR) |
$1130 (Skel & cardiac muscle & liver) $1525 (^cell lines) | ||
^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 page.
Notes
The high coverage whole mitochondrial genome (mtDNA) analysis (NGS) option replaces the previous limited common mitochondrial mutation panel in 2020.