||Mitochondrial DNA (mtDNA) Content Quantification determines if mtDNA depletion is present in the sampled tissue. The mtDNA content measurement, together with the clinical features, facilitates the selection of causative nuclear genes for sequence analysis.
Mitochondrial DNA depletion is a heterogeneous group of disorders characterized by the reduction of mtDNA content in affected tissues. Affected patients usually present in infancy with hypotonia, lactic acidemia, encephalopathy, hepatopathy, or myopathy. Mutations in at least 10 nuclear genes are known to cause various forms of mtDNA depletion syndromes, including severe infantile hepatic, hepatocerebral, myopathic, or encephalomyopathic forms.
Reasons for Testing:
Suspicion of mtDNA depletion syndrome