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Genetic Labs

Houston, Texas

Genetic Laboratory
Baylor Genetics Laboratories
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Medical Genetics Test Details

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FISH Analysis - Langer-Giedion Syndrome Panel (EXT1 and TRPS1)
Trichorhinophalangeal Syndrome Type II | Langer | Giedion
Test Information: Confirmation of Clinical Diagnosis
Test Details
Test Code: 8430
Test Includes: For patients suspected of having LGS, the FISH-based assay utilizes two probes in order to detect the presence or absence of the EXT1 and TRPSI contiguous genes.

Special Notes: For initial screening we recommend CMA - HR (#8655). FISH analysis for the EXT1 gene (#8472) or the TRPSI gene (#8482) are also available.
Technical Information
Methodology: Fluorescent in Situ Hybridization (FISH) Analysis
Gene Name: EXT1, TRPS1
Protein Name: Exostosin-1, Zinc finger transcription factor TRPS1
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: $830.00 *Institutional discounts may apply, please call.
CPT Codes: 88230x1, 88271x2, 88273x1, 88291x1

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