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
Skin biopsy: If a skin biopsy is received, fibroblast culture will be added at an additional charge. If viable cells are not obtained, the client will be notified. Prenatal specimens: If an amniotic fluid specimen is received, an amniotic fluid culture will be performed at an additional charge. If chorionic villi, cultured chorionic villi, or cultured amniocyte specimen is received, a fibroblast culture will be performed at an additional charge. For any prenatal specimen that is received, maternal cell contamination testing will be performed at an additional charge. Cord blood: For cord blood specimens that have an accompanying maternal blood specimen, maternal cell contamination studies will be performed at an additional charge.
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
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided