|
Test Catalog
|
|
EFHC1 (JME) DNA Sequencing Test |
#417 |
|
| Type of Disorder: |
Epilepsy |
|
| Typical Presentation: |
Myoclonic jerks upon awakening, grand mal tonic-clonic seizures, clonic seizures |
|
| Disease(s) tested for: |
Juvenile Myoclonus Epilepsy (JME) |
|
| Test Details |
|
| Test Code: |
417 |
|
| Profiles that contain this test: |
Myoclonus Epilepsy Evaluation
|
|
| Informed Consent Required: |
Yes |
|
| Medicare ABN Required: |
Yes |
|
| Technical Information |
|
| Utility: |
Detection of EFHC1 mutation |
|
| Methodology: |
DNA sequencing
|
|
| Reference Value: |
No sequence variation detected |
|
| CPT Code(s): |
83891(1), 83898(11), 83904(11), 83909(1), 83912(1) |
|
| Shipping Considerations |
|
| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
10 ml |
| Collection Tube: |
Lavender top (EDTA) |
|
| Storage Conditions: |
Do not freeze, refrigerate |
|
| Shipping Conditions: |
Room temperature, avoid freezing. Ship within 24 hours of draw, Monday-Friday only. |
|
| Test Turnaround: |
28 days |
|
|
|
