Pediatric Genetics, Genomics & Metabolism

The Division of Genetics, Genomics and Metabolism provides a full range of services for the diagnosis, counseling and treatment of patients with genetic and congenital disorders. These abnormalities include birth defects, intellectual disability, short stature, genetic syndromes and metabolic disorders. Our physicians have gained an international reputation for their expertise in evaluating and treating neurofibromatosis (which causes tumors to form in the nervous system), phenylketonuria (PKU), which if untreated causes intellectual disability, and lysosomal storage disorders (which are caused by enzyme deficiencies in the cell), such as the mucopolysaccharidoses, Gaucher disease, Fabry disease, Pompe disease and many others. We care for approximately 2,500 infants, children and young adults each year.

We offer the following services:

• Multispecialty physician consultations with the patient and family
• Genetic screening and diagnostic testing
• Genetic counseling for people who may be at risk of an inherited disease or abnormal pregnancy
• Full-service, state-of-the-art laboratory testing
• Nutritional services for metabolic disorders such as phenylketonuria​ (PKU)

Lurie Children's is also the first in Illinois to receive designation as a NORD Rare Disease Center of Excellence, becoming one of 40 U.S. academic medical centers selected to be a part of the first-of-it-kind national network of U.S. medical institutions dedicated to diagnosing, treating, and researching all rare diseases. The network is led by the National Organization for Rare Disorders (NORD) and is designed to foster knowledge sharing between rare disease experts across the country to help meet the unmet needs of more than 25 million Americans living with a rare disease. Learn more. 

Our Approach to Pediatric Genetic Disorders