Genomic Unity® Comprehensive Mitochondrial Disorders Analysis
Use
Genomic Unity® Comprehensive Mitochondrial Disorders Analysis is a diagnostic test designed to identify genetic variants that cause mitochondrial disorders. It uses a whole genome platform to detect all major clinically relevant variant types from a single sample. This test focuses on mitochondrial genome analysis combined with analysis of 336 nuclear genes associated with mitochondrial disorders, providing a unified clinical report that replaces multiple testing methodologies.
Special Instructions
Not provided.
Limitations
The test does not fully cover the NDUFB11, PRODH, and SLC6A8 genes, which limits the detection of all pathogenic variants. Moreover, certain regions of PRODH and TMLHE are non-unique, which challenges the correct location assignment of variants, affecting interpretation. The false negative rate for mitochondrial large deletions has not been determined.
Methodology
NGS (WGS)
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 https://www.variantyx.com/resources/provider-resources/specimen-requirements/blood-specimen-requirements/ for detailed instructions.