Mitochondrial Encephalomyopathic Evaluation

Test Code
579

Test Details


Test code: 579
Type of disorder: Mitochondrial Disorders
Disease(s) tested for: Mitochondrial Encephalomyopathy
Tests included:
Informed Consent Required: This test requires physician attestation that patient consent has been received

Technical Information


Clinical Significance: Detects mutations associated with the encephalomyopathic phenotype.

Typical Presentation: Mitochondrial disease is a clinically heterogeneous group of multisystem disorders characterized by muscle weakness and wasting caused by mutations of nuclear or mitochondrial DNA. The encephalomyopathic phenotype is characterized by exercise intolerance, hearing loss, migraine-like headaches, seizures, ataxia.

Indications for testing: Symptomatic individuals consistent with a clinical presentation of a Mitochondrial Encephalopathy phenotype.
Methodology: Sanger Sequencing
Reference Range: No mutations 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.

CPT: 81405(2), 81406(1)

Specimen Requirements


Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.

Specimen Type: Whole blood
Specimen Stability: Room temperature: 10 days, Refrigerated: 10 days, Frozen: Unacceptable
Specimen Requirements: 8 mL (6 mL minimum) whole blood collected in two (lavender-top) EDTA tubes. Pediatric (0-3 years): 2 mL (1 mL minimum)
Instructions: 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

Shipping Considerations


Transport Temperature: Room temperature
Set-up/Analytic Time: 14-28 days

Additional Resources

Letters of Medical Necessity

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