Casandra
Casandra Test Code GE71569Version 1 (DRAFT)
Performing Lab
Lab GeneDxLab Test ID 82343
XomeDx mtDNA (mitochondrial DNA) Sequencing & Deletion Testing
Clinical Use
Order TestUse
This test evaluates mitochondrial DNA (mtDNA) for point variants and large deletions across the entire mitochondrial genome. It is used in the diagnosis of mitochondrial disorders by detecting pathogenic mtDNA variants including those associated with point mutations and deletions, with consideration of heteroplasmy and tissue‑specific variant loads.
Special Instructions
Not provided.
Limitations
Heteroplasmy levels may vary by tissue; some mtDNA variants may not be detected depending on the sample type. Large deletions and point mutations can be missed if below detection threshold or not present in sampled tissue.
Test Details
Methodology
NGS
Biomarkers
No genes
GeneSNV/Indel
Mutation • Categorical (e.g., Positive / Negative / Indeterminate)
No genes
GeneDeletion
Copy Number Alteration • Categorical (e.g., Positive / Negative / Indeterminate)
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided
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