ExomeDx™ + mito (Trio)
Use
ExomeDx™ + mito (Trio) combines comprehensive exome sequencing with mitochondrial genome sequencing and deletion testing in a trio (patient plus two biologic relatives). It is intended for patients with suspected mitochondrial disease or other genetic etiologies where both nuclear and mitochondrial DNA variants may contribute to the phenotype. Trio testing enhances diagnostic confidence by enabling inheritance analysis and variant interpretation.
Special Instructions
Available only as Trio (proband plus both biological parents). The mitochondrial genome sequencing and deletion testing is billed and reported separately from exome sequencing. Ordering requires signed test requisition and appropriate consent for parental samples.
Limitations
As with all exome-based testing, not all variant types may be detected—such as structural variants beyond exonic CNVs, deep intronic variants, or repeat expansions. Mitochondrial heteroplasmy below detection threshold may be missed. Detection depends on coverage and sample quality; interpretation may be limited without clinical correlation and phenotype information.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Fresh blood samples preferred (proband and parental samples)