| Test code: | 349 |
| Type of disorder: | Movement Disorders |
| Disease(s) tested for: | Friedreich's Ataxia |
| Genes Included: | FXN, |
| Tests included: | Friedreich Ataxia (FXN) DNA Sequencing Test Friedreich Ataxia (FXN) Repeat Expansion Test |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| Clinical Significance: | Detection of sequence variants and expansions of FXN |
| Methodology: | Next Generation Sequencing, Repeat Expansion Detection by PCR, Long Read Sequencing |
| Reference Range: | No sequence variants detected or expansions outside of the normal range |
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), 81284(1) |
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: | |
| 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. |
| Transport Temperature: | Room temperature |
| Set-up/Analytic Time: | 21-28 days |
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