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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: |
Autosomal Recessive Ataxia Evaluation, 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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| Patents: |
7,119,186, 7,824,860 |
| CPT Coding |
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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.
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| Stacked CPT Code(s): |
83891(1), 83898(7), 83904(7), 83909(7), 83912(1) |
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| Shipping Considerations |
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| Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form. |
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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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