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Test Catalog
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Von Hippel-Lindau Syndrome (VHL) Evaluation |
#858 |
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| Type of Disorder: |
Family Cancer Syndromes |
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| Typical Presentation: |
Vision loss, headache, slurred speech, nystagmus, positional vertigo, dysmetria, hypertension, palpitations, tachycardia, nausea |
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| Indications for Testing: |
Cerebellar hemangioblastoma; Retinal hemangioblastoma; Pheochromocytoma; Family history of VHL |
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| Disease(s) tested for: |
Von Hippel-Lindau Syndrome |
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| Test Details |
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| Test Code: |
858 |
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| Profiles that contain this test: |
Pheochromocytoma Evaluation
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
Yes |
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| Special Notes: |
This test does not detect large deletions in the VHL gene. |
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| Technical Information |
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| Utility: |
Detects mutations in the coding sequence of VHL |
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| Methodology: |
Polymerase Chain Reaction (PCR), DNA sequencing of entire protein coding region of the VHL gene |
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| Reference Value: |
No mutation detected |
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| Patents: |
6,312,890, 5,654,138 |
| 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(3), 83904(3), 83909(3), 83912(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 (pediatric minimum: 2 mL) |
| Collection Tube: |
Lavender top (EDTA) or yellow top (ACD-A) |
| Stability: |
Hemolysis may compromise DNA recovery and integrity after 48 hrs |
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| Storage Conditions: |
For short periods (until shipped) at 4°C |
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| Shipping Conditions: |
Overnight at room temperature (specimen arrival must be less than 24 hrs after collection); ship Monday through Thursday only |
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| Test Turnaround: |
2 - 8 weeks |
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