Care at 5 locations
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)
Our Approach to Pediatric Genetic Disorders
We treat the whole family along with the patient, offering a wide range of support services for the entire family. For teens and their families, Lurie Children’s offers programs that help transition from pediatric to adult care.
A multidisciplinary team of experienced healthcare providers will care for your child. This team approach makes it easier for you to see every specialist your child needs under one roof and often in the same visit.
We participate in several multidisciplinary programs to help diagnose and treat children with genetic and congenital conditions.Learn more
Pediatric Genetic Disorders and Conditions We Treat
We take specialized approaches to diagnosing and treating our patients' genetic and congenital disorders. Often times we bring in specialists from other areas of the hospital to help us best care for a child.See a List
To make an appointment with one of our specialists, call the Division of Genetics, Genomics and Metabolism at 312.227.6120.
Ann & Robert H. Lurie Children's Hospital of Chicago
225 E. Chicago Ave.
Chicago, Illinois 60611
Lurie Children's Hospital Outpatient Center in Westchester
Surgical Treatment Center
2301 Enterprise Drive
Westchester, Illinois 60154
Lurie Children's Hospital Outpatient Center in Lincoln Park
2515 N. Clark Street/467 W. Deming Place
Chicago, Illinois 60614-3393
Lurie Children's at Northwestern Medicine Central DuPage Hospital Pediatric Outpatient Center
25 N. Winfield Road
Winfield, Illinois 60190
Lurie Children’s Hospital Outpatient Center in Skokie
3722 W. Touhy Avenue
Skokie, Illinois 60076
Lurie Children's Hospital Outpatient Center in Arlington Heights
Busse Center for Specialty Medicine
880 W. Central Rd, Ste 6400
Arlington Heights, Illinois 60005
Tests & Treatments
The Division of Genetics, Genomics and Metabolism offers comprehensive genetic screening and laboratory services.
Lurie Children's Pediatric Genetic Specialists
Our genetics team includes medical geneticists (physicians who specialize in medical conditions with a genetic basis). The team also includes:
- Advanced practice providers
- Genetic counselors
- Social workers
Consultations may include other pediatric specialists to give your child the most comprehensive care available. For instance, our multidisciplinary team includes eye physicians (ophthalmologists) for patients with neurofibromatosis, heart doctors (cardiologists) for those with Marfan syndrome and orthopaedic physicians for children with skeletal dysplasias.
Resources & Support
Visit the following helpful and physician-recommended websites to learn more about genetic and congenital disorders.
- Clinical Studies
- Jewish Genetic Disorders Program
- National Tay-Sachs and Allied Diseases Association
- National Gaucher Foundation
- Marfan Syndrome Foundation
- PKU Organization of Illinois
- Galactosemia Foundation
- MPS Society
- The Children's Tumor Foundation
- NF Midwest
- Acid Maltase Deficiency Association (AMDA)
- Muscular Dystrophy Association (MDA)
- National Fabry Disease Foundation (NFDN)
- Fabry Support and Information Group (FSIG)
The Division of Genetics, Genomics and Metabolism is deeply committed to research, including studies in patients (clinical trials).