Mitochondrial - mtDNA genome
Overview
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 (singleton) and 73457 (trio) is now being offered at VCGS. Please see our Mitochondrial diseases page for further details.
Test type
Next generation sequencing (massively parallel sequencing) NGS
Turnaround time
3 -4 months
Rapid: 3 weeks
Notes
Additional tests such as respiratory chain enzyme testing and deletion and duplication quantitative testing may be ordered. Please contact us to request this testing.