Clinics and Departments

Laboratory Services

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

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 Sunday-Thursday overnight. If specimens are collected on Friday or Saturday, 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 January 2013
Phone: 1-888-824-3637
Fax: 773-702-9130

Updates:

2/11/2013: CPT update



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