Known mtDNA Variant(s) by NGS
Use
This test is designed to detect a specific, previously identified mitochondrial DNA (mtDNA) variant(s) in a patient, using next‑generation sequencing to assess the entire mitochondrial genome for the known variant(s) of interest in comparison to the revised Cambridge Reference Sequence (rCRS, NC_012920). It is particularly useful when there is a known familial or index-case variant and can help confirm its presence and heteroplasmy level in additional individuals.
Special Instructions
Report results for known mtDNA variant(s) using genomic DNA from tissue biopsy, blood in EDTA, or buccal samples (per code 453). Ensure to follow the GeneDx specimen requirements for submission of DNA from acceptable specimen types.
Limitations
Lower limit of heteroplasmy detection is 2%, so variants present below this threshold may not be reliably detected. The test is limited to detection of known variant(s); it may not detect novel or additional variants outside the queried position(s).
Methodology
NGS
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Tissue
Volume
Not provided
Minimum Volume
Not provided