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Test Catalog
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Myoclonus Epilepsy Evaluation |
#699 |
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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, MERRF, Juvenile Myoclonus Epilepsy (JME), Unverricht-Lundborg Disease, Action myoclonus renal failure syndrome (AMRF) |
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| Test Details |
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| Test Code: |
699 |
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| Profile includes: |
CSTB (EPM1) DNA Sequencing Test, EFHC1 (JME) DNA Sequencing Test, EPM1 DNA Test, EPM2A DNA Test , EPM2B DNA Test , MERRF mtDNA Evaluation, SCARB2 DNA Sequencing Test
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| Informed Consent Required: |
Yes |
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| Technical Information |
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| Utility: |
Detects sequence variations in the CSTB (EPM1), SCARB2, EFHC1, EPM2A, and EPM2B genes, point mutations in the tRNALys gene and dodecamer repeat expansions in the CSTB (EPM1) gene |
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| Methodology: |
DNA Sequencing, Southern blot, Polymerase Chain Reaction (PCR) and Restriction Fragment Length Polymorphism (RFLP) |
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| Reference Value: |
No mutation or repeat expansions detected |
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| Patents: |
6,432,635 |
| 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), 83892(5), 83894(5), 83896(1), 83897(1), 83898(37), 83904(33), 83909(33), 83912(1) |
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| CPT 2013: |
81401(1), 81404(1), 81406(1), 81479(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: |
Refrigerate |
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| Shipping Conditions: |
Ship room temperature, avoid freezing |
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| Test Turnaround: |
28 days |
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