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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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| 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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| Patents: |
6,432,635, 6,825,328 |
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| Shipping Considerations |
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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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