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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 - Rubinstein-Taybi Syndrome - CREBBP Related
Broad Thumbs-Hallux Syndrome | CREBBP-Related Rubinstein-Taybi Syndrome
Test Information: Confirmation of Clinical Diagnosis
Test Details
Test Code: 8477
Special Notes: Approximately 11% of individuals with Rubinstein-Taybi syndrome have a submicroscopic deletion on the distal short arm of chromosome 16 demonstrated by FISH. Mutations in the CREBBP gene account for a majority of cases of Rubinstein-Taybi syndrome and will therefore not be detected by FISH.
Technical Information
Methodology: Fluorescent in Situ Hybridization (FISH) Analysis
Gene Name: CREBBP
Protein Name: CREB-binding protein
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 the sample at room temperature to the laboratory by overnight express. Specimen should arrive in the laboratory within 48 hrs of sample date. Specimen cannot be frozen.

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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