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Genetic Labs

Houston, Texas

Genetic Laboratory
Medical Genetics Laboratories
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Medical Genetics Test Details

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FISH Analysis - Neurofibromatosis Type I
Von Recklinghausen Disease | Von Recklinghausen's Neurofibromatosis | NF1 | Neurofibromatosis 1
Test Information: Confirmation of Clinical Diagnosis, Carrier Testing

Test Details
Test Code: 8474
Special Notes: For initial screening we recommend CMA - HR (#8655).

Deletions of the NF1 gene occur in approximately 5% of all patients with NF1. In patients with a severe phenotype, deletions may be detected in approximately 20%. The majority of patients with NF1 have other mutations in the NF1 gene not detected with this FISH assay.
Technical Information
Methodology: Fluorescent in Situ Hybridization (FISH) Analysis
Gene Name: NF1
Protein Name: Neurofibromin
Sample & Shipping Information
Test Requisition: Cytogenetics
Specimen Type: Blood
Requirements: Draw blood in a Sodium Heparin (green-top) tube(s) and send 3-5 cc (Adults/Children) or 1-2 cc (Infant< 2 years).
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Specimen should arrive in the laboratory within 48 hrs of collection. Do not heat or freeze.

Turn Around Time: 14 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 88230x1, 88273x1, 88271x1, 88291x1


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