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
Not provided.
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
0 days
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
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