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Lab Dept:
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Anatomic Pathology
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Test Name:
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SOTOS SYNDROME (NSD1) DELETION/DUPLICATION
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General Information
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Lab Order Codes:
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SOTD
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Synonyms:
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NSD1 Deletion Duplication
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CPT Codes:
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81405 – NSD1 (nuclear receptor binding binding SET domain protein 1), deletion/duplicaton – Molecular Pathology, Level 6
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Test Includes:
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Deletion/Duplication analysis of the NSD1 gene by MLPA to identify deletions/duplications of one or more exons.
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Logistics
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Test Indications:
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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.
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Lab Testing Sections:
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Anatomic Pathology - Sendouts
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Referred to:
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University of Chicago Genetic Services Laboratory
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Phone Numbers:
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MIN Lab: 612-813-6280
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STP Lab: 651-220-6550
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Test Availability:
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Daily, 24 hours
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Turnaround Time:
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4 weeks
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Special Instructions:
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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
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Specimen
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Specimen Type:
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Whole blood
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Container:
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Lavender top (EDTA) tube
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Draw Volume:
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10 mL (Minimum: 3 mL) blood
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Processed Volume:
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Same as Draw Volume
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Collection:
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Routine venipuncture
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Special Processing:
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Lab Staff: Do Not centrifuge. Specimen should remain in original collection container. Specimen should remain at room temperature. Send Sunday-Thursday overnight. If specimens are collected on Friday or Saturday, specimen can be held at Children’s refrigerated and shipped for appropriate delivery.
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Patient Preparation:
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None
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Sample Rejection:
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Frozen specimens, mislabeled or unlabeled specimens
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Interpretive
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Reference Range:
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Interpretive report
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Critical Values:
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N/A
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Limitations:
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N/A
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Methodology:
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MLPA
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References:
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University of Chicago Genetic Services Laboratory January 2013
Phone: 1-888-824-3637
Fax: 773-702-9130
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Updates:
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2/11/2013: CPT update
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