Mitochondrial DNA Depletion


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
Forms: 1. Requisition Form
2. Informed Consent Form – Mitochondrial Testing