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Test Catalog
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TSC1 DNA Sequencing Test |
#521 |
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| Type of Disorder: |
Epilepsy |
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| Typical Presentation: |
Any combination of seizures, developmental delay, skin lesions, cortical tubers and 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: |
521 |
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| Profiles that contain this test: |
Complete Tuberous Sclerosis Evaluation, Complete Tuberous Sclerosis Evaluation (Old)
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
Yes |
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| Special Notes: |
Unless a family member has been confirmed by prior testing, it is recommended that this test be done as part of the Complete Tuberous Sclerosis Evaluation, #520 |
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| Technical Information |
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| Utility: |
Detects sequence variations in TSC1 gene |
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| Methodology: |
Polymerase Chain Reaction (PCR) and DNA sequencing |
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| Reference Value: |
No sequence variation detected |
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| CPT Code(s): |
83891(1), 83898(22), 83904(22), 83909(1), 83912(1) |
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| Patents: |
6,326,483 and 6,548,258 |
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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: |
Room temperature, avoid freezing. Ship same day, must arrive Monday - Friday. |
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| Test Turnaround: |
21-28 days |
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