Genomic Unity® Mitochondrial Genome Sequence Analysis
Use
The Genomic Unity® Mitochondrial Genome Sequence Analysis is designed to identify mitochondrial variants that cause mitochondrial disorders. It focuses on analyzing all major clinically relevant variant types from a single sample, including an extensive examination of 37 mitochondrial genes. By providing a focused clinical report on small sequence changes, this test assists in diagnosing conditions related to mitochondrial dysfunction, particularly when multiple organ systems are affected. Additionally, reflex options expand analysis capabilities to include the nuclear exome and genome, offering a comprehensive overview of potential genetic issues linked to mitochondrial disorders.
Special Instructions
Not provided.
Limitations
The test provides a high sensitivity of over 99.2% for detecting SNVs, along with specificity and positive predictive value exceeding 99.9%. However, the analysis chiefly focuses on small sequence changes and characterized regulatory variants. While heteroplasmy detection is comprehensive at levels above 5%, this may limit the identification of variants with lower heteroplasmy percentage. Additionally, large-scale deletions and variants requiring nuclear genome analysis necessitate extended testing options.
Methodology
NGS
Biomarkers
Result Turnaround Time
4 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5ml
Minimum Volume
Not provided
Collection Instructions
Please refer to the [specimen requirements](https://www.variantyx.com/resources/provider-resources/specimen-requirements/blood-specimen-requirements/) for specific instructions.