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Test Catalog
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Complete Tuberous Sclerosis Evaluation |
#525 |
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| Type of Disorder: |
Epilepsy |
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| Typical Presentation: |
Any combination of seizures, developmental delay, skin lesions, cortical tubers, hamartomas in various parts of the body |
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| Disease(s) tested for: |
Tuberous Sclerosis |
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| Test Details |
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| Test Code: |
525 |
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| Profile includes: |
TSC1 DNA Sequencing Test, TSC2 DNA Deletion Test, TSC2 DNA Sequencing Test
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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: |
Detects sequence variations in TSC1 and TSC2 genes as well as deletions in TSC2 gene |
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| Methodology: |
Polymerase Chain Reaction (PCR) and DNA sequencing and dosage analysis of TSC2 |
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| Reference Value: |
No mutations detected |
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| CPT Code(s): |
83891(1), 83896(31), 83898(64), 83900(1), 83901(29), 83904(64), 83912(1) |
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| Patents: |
6,207,374, 6,232,452 |
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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: |
Room temperature |
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| Shipping Conditions: |
Overnight, room temperature |
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| Test Turnaround: |
6-8 weeks |
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