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Test Catalog
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| Type of Disorder: |
Epilepsy |
|
| Typical Presentation: |
Individuals in late childhood or adolescence with photosensitive myoclonus, epilepsy, ataxia |
|
| Disease(s) tested for: |
Baltic myoclonus |
|
| Test Details |
|
| Test Code: |
410 |
|
| Profiles that contain this test: |
Myoclonus Epilepsy Evaluation
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|
| Informed Consent Required: |
Yes |
|
| Medicare ABN Required: |
Yes |
|
| Special Notes: |
This test does not detect point mutations in the Cystatin B gene that may lead to Baltic Myoclonus. |
|
| Technical Information |
|
| Utility: |
Detects dodecamer repeat expansions in the cystatin B gene |
|
| Methodology: |
Southern blot |
|
| Reference Value: |
No expansion detected |
|
| Patents: |
6,432,635 |
| CPT Coding |
|
|
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), 83892(1), 83894(1), 83896(1), 83897(1), 83912(1) |
|
| Shipping Considerations |
|
| 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 |
|
| Shipping Conditions: |
Room temperature, avoid freezing. Ship same day, must arrive Monday - Friday. |
|
| Test Turnaround: |
28 days |
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