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Test Catalog
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| Type of Disorder: |
Epilepsy |
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| Typical Presentation: |
Progressive myoclonus, myoclonic epilepsy, dementia |
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| Disease(s) tested for: |
Progressive Myoclonus Epilepsy, Lafora disease |
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| Test Details |
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| Test Code: |
411 |
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| Profiles that contain this test: |
Lafora Disease Evaluation , Myoclonus Epilepsy Evaluation
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
Yes |
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| Special Notes: |
Unless a family member has been confirmed by prior testing, it is recommended that this test be done as part of the Lafora disease Evaluation, #415. |
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| Technical Information |
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| Utility: |
Detection of sequence variations in the EPM2A gene |
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| Methodology: |
DNA Sequencing |
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| Reference Value: |
No sequence variation detected |
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| CPT Code(s): |
83891(1), 83898(4), 83904(4), 83909(1), 83912(1) |
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| Patents: |
6,825,328 |
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| Shipping Considerations |
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| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
10ml |
| Collection Tube: |
Lavender top (EDTA) |
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| Storage Conditions: |
Do not freeze, refrigerate |
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| Shipping Conditions: |
Room temperature, avoid freezing |
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| Test Turnaround: |
28 days |
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