Test & specimen information
Mitochondrial analysis overview
Overview
There are a range of testing options for mitochondrial analysis.
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. |
Notes
The high coverage whole mitochondrial genome (mtDNA) analysis (NGS) option replaces the previous limited common mitochondrial mutation panel in 2020.