Known mtDNA Variant(s) Testing by NGS‑Urine

Clinical Use

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

Not provided.

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.

Test Details