Known mtDNA Variant(s) Testing by NGS‑Urine
Use
This targeted mitochondrial DNA variant test is used to detect known pathogenic or likely pathogenic variants in the mitochondrial genome via next‑generation sequencing from urine specimens. It is particularly useful when a specific familial or previously identified variant is to be confirmed or excluded, especially for maternal inheritance patterns.
Special Instructions
Using genomic DNA extracted from urine, the entire mitochondrial genome is amplified and sequenced; analysis compares results to the revised Cambridge Reference Sequence (rCRS, NC_012920). Lower limit of heteroplasmy detection is approximately 5%.
Limitations
The test detects heteroplasmy at levels of approximately 5% or above. Lower level heteroplasmic variants may not be reliably detected. Large deletions or variants below this threshold may be missed. Interpretation is limited to known variants; novel or unexpected variants may not be identified.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Urine
Volume
Not provided
Minimum Volume
Not provided