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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 |
|
| Disease(s) tested for: |
Progressive Myoclonus Epilepsy, Lafora disease |
|
| Test Details |
|
| 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 |
|
| Medicare ABN Required: |
Yes |
|
| 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 |
|
| Utility: |
Detection of sequence variations in the EPM2A gene |
|
| Methodology: |
DNA Sequencing |
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| Reference Value: |
No sequence variation detected |
|
| Patents: |
6,825,328, 7,550,571 |
| 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.
|
| Stacked CPT Code(s): |
83891(1), 83898(4), 83904(4), 83909(4), 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. |
|
| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
10ml |
| Collection Tube: |
Lavender top (EDTA) |
|
| 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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