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NARP mtDNA Evaluation #516
Type of Disorder: Neuromuscular Disorders
Typical Presentation: Features may include myoclonus, ataxia, neuropathy, retinitis pigmentosa, hearing loss, weakness and seizures
Disease(s) tested for: Leigh's syndrome
Test Details
Test Code: 516
Profiles that contain this test: Common Mitochondrial Disorders Evaluation
Informed Consent Required: No
Medicare ABN Required: No
Technical Information
Utility: Detects mtDNA point mutations linked to the NARP syndrome
Methodology: Polymerase Chain Reaction (PCR) and Restriction Fragment Length Polymorphism (RFLP)
Reference Value: No mutation detected
CPT Coding
The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
Stacked CPT Code(s): 83891(1), 83892(2), 83898(1), 83909(1), 83912(1)
Shipping Considerations
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
Preferred Specimen Requirements
Type: Whole blood
Minimum Volume: 20ml
Collection Tube: Lavender top (EDTA)
Alternate Specimen Requirements
Type: Muscle tissue
Minimum Volume: 100mg
Collection Tube: Cryovial
Storage Conditions: Do not freeze blood, refrigerate. Muscle must be frozen immediately and stored at -70? celsius or lower.
Shipping Conditions: Ship blood at room temperature, avoid freezing and ship blood within 24 hours of drawing. Ship muscle frozen on 10 lbs. of dry ice, use a Muscle Biopsy Collection Container, provided by Athena.
Test Turnaround: 14-21 days
Canada US