Friedreich Ataxia (FXN) DNA Sequencing Test

Test Code

Test Details

Test code: 348
Type of disorder: Movement Disorders
Disease(s) tested for: Friedreich's Ataxia
Genes Included: FXN
Profiles that contain this test:
Informed Consent Required: This test requires physician attestation that patient consent has been received

Technical Information

Clinical Significance: Detection of sequence variants of FXN

Typical Presentation: Children and Adults: Ataxia, dysarthria, muscle weakness, spasticity in the lower limbs, areflexia, cardiomyopathy, diabetes mellitus

Indications for testing: Clinical features consistent with those of Friedreich's Ataxia
Methodology: Next Generation Sequencing
Reference Range: No sequence variants 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: 81286(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: 21-28 days

Additional Resources

Letters of Medical Necessity

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