ExomeDx™ + mito (Duo)
Use
ExomeDx™ + mito integrates whole exome sequencing with mitochondrial genome sequencing and deletion testing to enhance diagnostic capability in patients suspected of mitochondrial disease. Duo testing—sequencing the proband and one biological relative—improves interpretation confidence and can help reduce uncertainty in variant classification.
Special Instructions
Available in proband, duo, or trio configurations. Requires submission of specimens for both the proband and the family member. Ordering typically involves completion of provider-signed requisition and, for familial testing, appropriate relative consent documentation and relevant clinical records.
Limitations
As with other exome sequencing approaches, certain variant types—including deep intronic changes, some structural variants, and complex genomic rearrangements—may be missed. Mitochondrial genome testing may not detect very low-level heteroplasmy or large-scale deletions depending on sequencing coverage and methodology.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Extracted DNA
Volume
Not provided
Minimum Volume
Not provided