XomeDx mtDNA (mitochondrial DNA) Sequencing & Deletion Testing
Use
This test evaluates mitochondrial DNA (mtDNA) for point variants and large deletions across the entire mitochondrial genome. It is used in the diagnosis of mitochondrial disorders by detecting pathogenic mtDNA variants including those associated with point mutations and deletions, with consideration of heteroplasmy and tissue‑specific variant loads.
Special Instructions
Specimen may need to be selected to reflect variant load due to heteroplasmy variability by tissue type (e.g., muscle, blood). No additional ordering variants indicated beyond the single test.
Limitations
Heteroplasmy levels may vary by tissue; some mtDNA variants may not be detected depending on the sample type. Large deletions and point mutations can be missed if below detection threshold or not present in sampled tissue.
Methodology
NGS
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided