Genetics

The Division of Genetics and Metabolism at the Nemours Children's Clinic in Jacksonville provides evaluation, diagnosis, genetic counseling, and treatment of infants, children, and adolescents with genetic disorders including chromosome disorders and inborn errors of metabolism. Indications for patient referral include patients with birth defects, conditions such as phenylketonuria (PKU) or galactosemia, mental retardation, or a history of a genetic disorder such as muscular dystrophy or cystic fibrosis.

A board certified medical geneticist directs the division. Two board certified genetic counselors are available for consultation and counseling.

A typical evaluation includes taking a medical history, developmental history, family history, and performing a physical examination. In many cases these histories are 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.