Genetics

The Department of Genetics and Metabolism provides diagnostic evaluation, medical management, genetic counseling, and information for children with genetic disorders and their families. Individuals who would benefit from these services include those with known or suspected genetic disorders, inborn errors of metabolism birth defects, developmental delay, failure to thrive, abnormal pregnancy outcome, or a family history of any of these problems. Two physicians who are board-certified in pediatrics and genetics lead the Division. Support staff includes a full time RN, a part-time genetic counselor and a part time dietitian.

A typical evaluation includes medical history, developmental history, family history, and physical examination. In many cases this is supplemented by laboratory tests (for example, chromosome analysis or metabolic screening), diagnostic studies (for example, computed tomography scanning (CT) or magnetic resonance imaging (MRI) scans), and referral to other subspecialty clinics (for example, ophthalmology, neurology, or orthopedics). After this diagnostic evaluation has been completed, education and counseling can be provided regarding the history of the condition, as well as its prognosis, treatment, and risk of recurrence. Counseling about reproductive options is also available.