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Test Catalog
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CSTB (EPM1) Evaluation |
#674 |
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| Type of Disorder: |
Epilepsy |
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| Typical Presentation: |
Individuals in late childhood or adolescence with photosensitive myoclonus, epilepsy, ataxia |
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| Indications for Testing: |
See Typical Presentation, as well as family members of individuals with CSTB (EPM1) mutations |
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| Disease(s) tested for: |
Unverricht-Lundborg Disease |
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| Test Details |
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| Test Code: |
674 |
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| Profile includes: |
EPM1 DNA Test, CSTB (EPM1) DNA Sequencing Test
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| Informed Consent Required: |
Yes |
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| Technical Information |
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| Utility: |
Detects mutations and repeat expansions in CSTB (EPM1) gene |
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| Methodology: |
DNA Sequencing and Southern blot |
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| Reference Value: |
No mutation or repeat expansion in the CSTB (EPM1) gene |
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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(1), 83894(1), 83896(1), 83897(1), 83898(3), 83904(3), 83909(3), 83912(1) |
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| CPT 2013: |
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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