Targeted Variants - Mitochondrial Genome Testing
Use
Targeted Variants - Mitochondrial Genome Testing is intended for individuals who require additional testing in a different tissue to determine heteroplasmy levels of targeted variants of interest. It also serves family members of affected patients, those who are not currently affected but wish to know their heteroplasmy levels, and individuals confirming sequence variants found in research studies. This test aims to provide insights into the genetic background by detecting specific mitochondrial genome variants.
Special Instructions
Utilize this test for targeted variant assessment, especially in familial contexts or when confirming research findings. Ensure specimen collection and submission are done in accordance with PreventionGenetics guidelines for accurate assessment. Patients' informed consent should be documented as per applicable laws.
Limitations
This test involves targeted variant detection and may not identify all potential variants within the mitochondrial genome. Its diagnostic capabilities are limited to the variants specified. Negative results should be cautiously interpreted, especially in the absence of a positive control specimen, as detection efficacy can't be assured without it. Variants detected in research settings must be verified independently.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
2-3 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided