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Test Catalog
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Myoclonus Epilepsy Evaluation |
#418 |
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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, progressive myoclonus, progressive neurological dysfunction, dementia |
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| Disease(s) tested for: |
Progressive Myoclonus Epilepsy, Lafora disease, EPM1, MERRF, Juvenile Myoclonus Epilepsy (JME) |
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| Test Details |
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| Test Code: |
418 |
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| Profile includes: |
EFHC1 (JME) DNA Sequencing Test, EPM1 DNA Test, EPM2A DNA Test , EPM2B DNA Test , MERRF mtDNA Evaluation
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
Yes |
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| Special Notes: |
This test does not detect point mutations in the Cystatin B gene that may lead to EPM1. This test detects the following point mutations in the tRNALys gene associated with MERRF: 8344, 8356, 8296, and 8363. |
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| Technical Information |
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| Utility: |
Detection of sequence variations in the EFHC1 and EPM2A and EPM2B genes, point mutations in the tRNALys gene and dodecamer repeat expansions in the cystatin B gene |
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| Methodology: |
DNA Sequencing, Polymerase Chain Reaction (PCR) and Southern blot |
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| Reference Value: |
No sequence variations, mutations or expansions detected |
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| Patents: |
6,432,635, 6,825,328, 7,550,571, 7,829,279, 7,871,768 |
| 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): |
83904(18), 83909( 1), 83891(1), 83892(5), 83894(1), 83896(1), 83897(1), 83898(22), 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: |
20ml |
| 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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