Mitochondrial DNA Deletion Heteroplasmy, ddPCR, Varies
Use
This test is useful for assessing the heteroplasmy level of previously detected large mitochondrial DNA (mtDNA) deletions and screening family members for these deletions. It is not recommended as a first-tier diagnostic test for mitochondrial disorders and does not assess mtDNA depletion. Identification of heteroplasmy for large mtDNA deletions can assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for mtDNA deletion syndromes.
Special Instructions
Not provided.
Limitations
This test does not assess mtDNA depletion and is not recommended for initial diagnostic testing of mitochondrial disorders. It mainly focuses on confirming and determining the heteroplasmy levels of previously detected large mtDNA deletions.
New York Approved
Methodology
PCR-based (ddPCR)
Biomarkers
No genes
Gene
Result Turnaround Time
0 days
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided