XomeDx® - Proband plus Mitochondrial Genome Sequencing & Deletion Testing
Use
Combined exome sequencing and mitochondrial genome sequencing enables comprehensive detection of both nuclear and mitochondrial pathogenic variants, including SNVs, indels, splice-site variants in coding regions, exon-level copy-number variants, as well as mtDNA SNVs and deletions, enhancing diagnostic yield for suspected genetic or mitochondrial disease in a proband context.
Special Instructions
Not provided.
Limitations
The test includes separate billing and reporting for exome and mitochondrial genome components. Rapid versions exist for critically ill patients. Coverage is limited to coding regions for exome and may not detect non‑coding variants; mtDNA testing detects SNVs and deletions but may not detect other structural variations not specified.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Other tests from different labs that may be relevant