Mitochondrial DNA Depletion
Purpose
To detect mitochondrial DNA (mtDNA) depletion syndrome
Mitochondrial DNA depletion is caused by autosomal recessive mutations in nuclear genes responsible for mtDNA maintenance. Disorders exhibiting mtDNA depletion are characterized as myopathic, encephalomyopathic, hepatocerebral, or neurogastrointestinal, depending on the primary system affected.
Direct analysis of muscle tissue for evidence of mitochondrial DNA depletion syndromes. Test results may indicate a nuclear DNA abnormality.
CPT Codes
81479
Methodology
Real-Time PCR
Turnaround Time
14 days
Specimen
Muscle