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

Forms