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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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| Patents: |
7,829,279 |
| CPT Coding |
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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.
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| Stacked CPT Code(s): |
83891(1), 83898(11), 83904(11), 83909(11), 83912(1) |
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| Shipping Considerations |
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| Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form. |
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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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