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).