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Test Catalog
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Complete Tuberous Sclerosis Evaluation |
#556 |
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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: |
556 |
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| Profile includes: |
TSC1 Deletion Analysis, 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: |
Detection of sequence variations and exonic deletions to the TSC1 & TSC2 genes |
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| Methodology: |
Polymerase Chain Reaction (PCR), DNA sequencing, and dosage analysis of TSC 1 and TSC2 |
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| Reference Value: |
No mutations or deletions detected |
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| Patents: |
6,326,483, 6,232,452, 6,207,374, 6,548,258 |
| 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), 83898(62), 83900(2), 83901(68), 83904(62), 83909(64), 83912(1), 83914(72)
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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: |
Room temperature |
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| Shipping Conditions: |
Overnight, room temperature |
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| Test Turnaround: |
4-6 weeks |
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