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Test Catalog
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TTPA (Ataxia with Vitamin E Deficiency) DNA Sequencing Test |
#283 |
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| Type of Disorder: |
Movement Disorders |
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| Typical Presentation: |
Ataxia, poor coordination of hand, speech and eye movements, uncoordinated and unsteady gait |
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| Disease(s) tested for: |
Ataxia with Vitamin E Deficiency (AVED) |
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| Test Details |
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| Test Code: |
283 |
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| Profiles that contain this test: |
Complete Ataxia Evaluation
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
No |
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| Special Notes: |
For clinical support on test ordering or result interpretation, please contact Athena's genetic counselors or lab directors. |
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| Technical Information |
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| Utility: |
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. |
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| Methodology: |
Polymerase Chain Reaction (PCR) and DNA Sequencing |
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| Reference Value: |
No sequence variations detected |
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| CPT Code(s): |
83891(1), 83898(5), 83904(5), 83909(1), 83912(1) |
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| Shipping Considerations |
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| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
10 ml |
| Collection Tube: |
Lavender top (EDTA) |
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| Storage Conditions: |
Refriderate, avoid freezing |
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| Shipping Conditions: |
Room temperature. Ship within 24 hours, Monday-Thursday only. |
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| Test Turnaround: |
14-21 days |
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