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Test Catalog
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EFHC1 (JME) DNA Sequencing Test |
#417 |
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| Type of Disorder: |
Epilepsy |
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| Typical Presentation: |
Myoclonic jerks upon awakening, grand mal tonic-clonic seizures, clonic seizures |
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| Disease(s) tested for: |
Juvenile Myoclonus Epilepsy (JME) |
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| Test Details |
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| Test Code: |
417 |
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| Profiles that contain this test: |
Myoclonus Epilepsy 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: |
Detection of EFHC1 mutation |
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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(11), 83904(11), 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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| Storage Conditions: |
Do not freeze, refrigerate |
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| Shipping Conditions: |
Room temperature, avoid freezing. Ship within 24 hours of draw, Monday-Friday only. |
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| Test Turnaround: |
28 days |
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