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Test Catalog
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SCN1B DNA Sequencing Test |
#538 |
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| Type of Disorder: |
Epilepsy |
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| Typical Presentation: |
Patients with GEFS+ will present with a range of clinical symptoms. These include typical febrile seizures, atypical febrile seizures in which seizures with fever may continue after six years of age, and afebrile tonic-clonic, myoclonic, absence, or atonic seizures. |
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| Disease(s) tested for: |
Generalized Epilepsy with Febrile Seizures Plus (GEFS+) |
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| Test Details |
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| Test Code: |
538 |
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| Profiles that contain this test: |
Febrile Seizures Evaluation
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
Yes |
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| Technical Information |
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| Utility: |
Detects mutations in the SCN1B gene |
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| Methodology: |
DNA sequencing |
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| Reference Value: |
No mutations detected |
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| CPT Code(s): |
83891(1), 83898(5), 83904(5), 83909(1), 83912(1) |
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| Shipping Considerations |
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| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
10 mL |
| Collection Tube: |
Lavender top (EDTA) |
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| Alternate
Specimen Requirements |
| Type: |
Cerebrospinal Fluid (CSF) |
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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: |
21-28 days |
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