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Test Catalog
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Aprataxin DNA Sequencing Test |
#493 |
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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 oculomotor apraxia 1 (AOA1) |
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| Test Details |
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| Test Code: |
493 |
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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: |
The Complete Ataxia Evaluation, #690 is recommended unless a family member's mutation has been confirmed by prior molecular tests. |
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| Technical Information |
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| Utility: |
Detects mutations in the aprataxin gene |
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| Methodology: |
Polymerase Chain Reaction (PCR) and DNA Sequencing |
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| Reference Value: |
No sequence alteration detected |
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| CPT Code(s): |
83891(1), 83898(7), 83904(7), 83909(1), 83912(1) |
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| Patents: |
7,119,186 |
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| Shipping Considerations |
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| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
15ml |
| Collection Tube: |
Lavender top (EDTA) |
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| Storage Conditions: |
Refrigerate, avoid freezing |
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| Shipping Conditions: |
Room temperature, avoid freezing. Ship within 24 hours, Monday - Thursday only. |
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| Test Turnaround: |
14-21 days |
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