Sotos Syndrome (Nsd1) Deletion/Duplication

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Lab Dept: Anatomic Pathology Test Name: SOTOS SYNDROME (NSD1) DELETION/DUPLICATION General Information Lab Order Codes: SOTD Synonyms: NSD1 Deletion Duplication CPT Codes: 81405 – NSD1 (nuclear receptor binding binding SET domain protein 1), deletion/duplicaton – Molecular Pathology, Level 6 Test Includes: Deletion/Duplication analysis of the NSD1 gene by MLPA to identify deletions/duplications of one or more exons. Logistics Test Indications: Sotos syndrome is characterized by characteristic facial features, developmental delay, and increased height and head circumference. Other features may include: neonatal jaundice, scoliosis, seizures, strabismus, conductive hearing loss, congenital heart defects, renal abnormalities, and behavior problems. Microdeletions and mutations of the NSD1 gene have been identified in approximately 80% of patients with a clinical diagnosis of Sotos syndrome. Lab Testing Sections: Anatomic Pathology - Sendouts Referred to: University of Chicago Genetic Services Laboratory (UCHI Test: 1223) Phone Numbers: MIN Lab: 612-813-6280 STP Lab: 651-220-6550 Test Availability: Daily, 24 hours Turnaround Time: 4 weeks Special Instructions: A completed University of Chicago Requisition and Consent forms must accompany the specimen or patient to the laboratory. Forms can be found at the following addresses. Requisition: http://dnatesting.uchicago.edu/sites/default/files/03ReqForm_2.pdf Consent: http://dnatesting.uchicago.edu/sites/default/files/05ConsentForm.pdf Specimen Specimen Type: Whole blood Container: Lavender top (EDTA) tube Draw Volume: 10 mL (Minimum: 3 mL) blood Processed Volume: Same as Draw Volume Collection: Routine venipuncture Special Processing: Lab Staff: Do Not centrifuge. Specimen should remain in original collection container. Specimen should remain at room temperature. Send Monday- Thursday overnight. If specimens are collected on Friday, Saturday or Sunday, specimen can be held at Children’s refrigerated and shipped for appropriate delivery. Patient Preparation: None Sample Rejection: Frozen specimens, mislabeled or unlabeled specimens Interpretive Reference Range: Interpretive report Critical Values: N/A Limitations: N/A Methodology: MLPA References: University of Chicago Genetic Services Laboratory March 2018 Phone: 1-888-824-3637 Fax: 773-702-9130 Updates: 2/11/2013: CPT update .

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