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| Test code: | 283 |
| Type of disorder: | Movement Disorders |
| Disease(s) tested for: | Ataxia with Vitamin E Deficiency (AVED) |
| Genes Included: | TTPA, |
| Profiles that contain this test: | Ataxia, Complete Recessive Evaluation Ataxia, Comprehensive Evaluation |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| Clinical Significance: | The sequence analysis of the TTPA gene evaluates the entire coding region (5 exons and surrounding splice sites) to detect point mutations or small deletions or insertions. Typical Presentation: Ataxia, poor coordination of hand, speech and eye movements, uncoordinated and unsteady gait |
| Methodology: | Next Generation Sequencing |
| Reference Range: | No sequence variations detected |
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: | 81404(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: | 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 |
| Transport Temperature: | Room temperature |
| Set-up/Analytic Time: | 21-28 days |
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