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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 - Sotos Syndrome
Cerebral Gigantism
Test Information: Confirmation of Clinical Diagnosis
Test Details
Test Code: 8479
Test Includes: This test is probe specific for the NSD1 gene.

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

Among those with classic Sotos syndrome, about 50% of individuals of Japanese heritage [Kurotaki et al 2003] and 10% of individuals of non-Japanese heritage have a 5q35 microdeletion that encompasses NSD1 [Tatton-Brown, Douglas, Coleman, Baujat, Cole et al 2005].
Technical Information
Methodology: Fluorescent in Situ Hybridization (FISH) Analysis
Gene Name: NSD1
Protein Name: Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific
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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