|
Test Catalog
|
|
SCN1A DNA Sequencing Test |
#535 |
|
| Type of Disorder: |
Epilepsy |
|
| Typical Presentation: |
Prolonged, repeated febrile seizures with generalized tonic-clonic, myoclonic, partial, and/or absence seizures. Developmental slowing during the second year, ataxia. |
|
| Disease(s) tested for: |
Severe Myoclonic Epilepsy of Infancy (SMEI), Generalized Epilepsy with Febrile Seizures Plus (GEFS+) |
|
| Test Details |
|
| Test Code: |
535 |
|
| Profiles that contain this test: |
Complete SCN1A Evaluation, Febrile Seizures Evaluation, Female Febrile Seizures Evaluation
|
|
| Informed Consent Required: |
Yes |
|
| Medicare ABN Required: |
Yes |
|
| Special Notes: |
In some cases, Athena may request and perform targeted analysis on the biological parents of the patient to help clarify result interpretation |
|
| Technical Information |
|
| Utility: |
Detection of sequence variations in the SCN1A gene |
|
| Methodology: |
DNA Sequencing |
|
| Reference Value: |
No sequence variation detected |
|
| Patents: |
7,078,515 |
| 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), 83898(30), 83904(30), 83909(30), 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 |
|
| Test Turnaround: |
21-28 days |
|
|
|
