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Test Catalog
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SCN1A DNA Sequencing Test |
#535 |
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| Type of Disorder: |
Epilepsy |
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| Typical Presentation: |
Prolonged, repeated febrile seizures with generalized tonic-clonic, myoclonic, partial, and/or absence seizures. Developmental slowing during the second year, ataxia. |
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| Disease(s) tested for: |
Severe Myoclonic Epilepsy of Infancy (SMEI), Generalized Epilepsy with Febrile Seizures Plus (GEFS+) |
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| Test Details |
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| Test Code: |
535 |
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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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| Special Notes: |
In some cases, Athena may request and perform targeted analysis on the biological parents of the patient to help clarify result interpretation |
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| Technical Information |
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| Utility: |
Detection of sequence variations in the SCN1A gene |
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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(30), 83904(30), 83909(1), 83912(1) |
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| Patents: |
7,078, 515 |
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| Shipping Considerations |
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| 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 |
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| Test Turnaround: |
21-28 days |
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