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Test Catalog
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| Type of Disorder: |
Epilepsy |
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| Typical Presentation: |
Individuals in late childhood or adolescence with photosensitive myoclonus, epilepsy, ataxia |
|
| Disease(s) tested for: |
Baltic myoclonus |
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| Test Details |
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| Test Code: |
410 |
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| Profiles that contain this test: |
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: |
This test does not detect point mutations in the Cystatin B gene that may lead to Baltic Myoclonus. |
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| Technical Information |
|
| Utility: |
Detects dodecamer repeat expansions in the cystatin B gene |
|
| Methodology: |
Southern blot |
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| Reference Value: |
No expansion detected |
|
| CPT Code(s): |
83891(1), 83892(1), 83894(1), 83896(1), 83897(1), 83912(1) |
|
| Patents: |
6,432,635 |
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| Shipping Considerations |
|
| 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. Ship same day, must arrive Monday - Friday. |
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| Test Turnaround: |
28 days |
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