Combined Mito Genome Plus Mito Focused Nuclear Gene Panel
Use
This test is intended for diagnosis of mitochondrial disease due to variants both in the mitochondrial genome and in nuclear‑encoded mitochondrial genes. It analyzes the entire mitochondrial genome and focused nuclear genes involved in mitochondrial function, enabling comprehensive evaluation of mitochondrial disorders.
Special Instructions
Patients should submit genomic DNA from specimens such as blood or cultured fibroblasts. The test includes NGS‑based sequencing with copy‑number variant (CNV) calling for nuclear genes, as well as whole mitochondrial genome sequencing. Some genes (e.g., SCO2, SDHA, COX6A1, etc.) have limitations for exon‑level CNV detection as noted.
Limitations
Next‑generation sequencing may not detect large‑scale mtDNA deletions present at ≤5% heteroplasmy or point variants present below ≈2% heteroplasmy. exon‑level deletion/duplication resolution varies by gene; SCO2 and SDHA lack CNV detection; COX6A1, GTPBP3, NDUFAF4, NDUFB3, NR2F1, SLC25A26, TAZ, and TYMP are limited to whole‑gene CNVs only.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Genomic DNA extracted directly from specimen or from cultured fibroblasts
Other tests from different labs that may be relevant