MERRF mtDNA Evaluation

Test Code

CPT Codes

Physician Attestation of Informed Consent
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.

MERRF 8344, MERRF 8356, MERRF 8296, MERRF 8363

Preferred Specimen
8 mL whole blood collected in EDTA (lavender-top) tube, or
Pediatric Volume: 2 mL

Minimum Volume
6 mL
Pediatric: 1 mL

Other Acceptable Specimens
Minimum: 100 mg muscle biopsy in a cyrovial, Muscle Biopsy Collection Container (supplied by Athena)

Do not freeze whole blood.
Transport frozen tissue samples on 10 pounds of dry ice.
Note: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood

Transport Temperature
Whole blood: Room temperature
Tissue: Frozen

Specimen Stability
Whole blood
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable


Room temperature: Unacceptable
Refrigerated: Unacceptable
Frozen: 30 days

Polymerase Chain Reaction • Restriction Fragment Length Polymorphism

Setup Schedule
Set up: Varies; Report available: 14-21 days

Reference Range
No mutations detected

Clinical Significance
Detects four mtDNA point mutations linked to MERRF syndrome.

Performing Laboratory
Athena Diagnostics, Inc.
200 Forest Street, 2nd Floor
Marlborough, MA 01752

The CPT Codes provided in this document 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 payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.