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Test Catalog
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| Type of Disorder: |
Epilepsy |
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| Typical Presentation: |
Brief, frequent, nocturnal motor seizures with hyperkinetic or tonic manifestations. Auras are often present. Onset is usually in childhood, persisting into adulthood. |
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| Disease(s) tested for: |
Autosomal dominant nocturnal frontal lobe epilepsy |
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| Test Details |
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| Test Code: |
547 |
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| Profile includes: |
CHRNA4 DNA Sequencing Test, CHRNB2 DNA Sequencing Test
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
Yes |
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| Special Notes: |
CHRNB2 DNA Sequencing Test is also part of this profile, however it cannot be ordered individually. |
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| Technical Information |
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| Utility: |
Definitive diagnosis, offer prognosis, predict familial recurrence risks, guide treatment options |
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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(17), 83904(17), 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 tube (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: |
14-21 days |
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