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DiGeorge syndrome 22q

 

Gene Reviews

This syndrome is named for American pediatric endocrinologist Angelo DiGeorge. It is a disorder that is caused by a microdeletion in chromosome band 22q11.2. The key gene that is lost is Tbx-1, a control gene that regulates other genes required for the connection of the heart with the blood circulation. Tbx-1 also controls genes involved in the development of the parathyroid and thymus glands and the shape of the face.

Babies with DiGeorge syndrome are born with hypocalcemia, congenital heart disease, cleft lip and/or palate, and are highly susceptible to infections.

Methodology: Fluorescent in Situ Hybridization (FISH) Analysis

Purpose: Confirmation of Clinical Diagnosis

ICD-10 Code D82.1 or Q93.81 for known 22q deletion

Test Requisition: Cytogenetics Requisition

Turn-around-time: 24-48 hours

Specimen Requirements

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Contact Information
Genetics Laboratory
University of Oklahoma Health Sciences Center
1122 NE 13 Street, Suite 1400, Oklahoma City, OK 73104
Phone: (405) 271-3589 |Fax: (405) 271-7117 Email: Dr. Shibo Li

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