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.