Pediatric Genetics
Facing questions about your child’s genetic health can be stressful. Our pediatric genetics team offers thorough evaluation, testing and guidance to help you stay informed and supported.
Care is delivered by University of Illinois College of Medicine Peoria (UICOMP) specialists working closely with OSF HealthCare Children’s Hospital of Illinois to ensure you and your child receive coordinated care.
What is pediatric genetics?
Pediatric genetics focuses on identifying, understanding and managing genetic conditions in children. These conditions may be inherited from a parent or occur for the first time in a child. This specialty helps you understand the cause of a condition and guides next steps for testing, treatment and long-term care.
What to Expect at Your Appointment
Your visit is centered on helping you understand your child’s medical story.
You can expect:
- A review of medical and family history
- A physical exam
- Time with a pediatric genetic counselor to discuss testing and insurance questions
- Guidance from a pediatric genetics specialist or genetic advanced practice registered nurses (APRNs)
- Support for difficult or unexpected results
If genetic testing is recommended, we explain what the test looks for, coordinate samples and review results with you.
Meet Your Care Team
Your care team includes:
- Pediatric geneticists and medical geneticists
- Pediatric genetic counselors
- Genetic APRNs
- Metabolic dietitians
These specialists work together with your child’s entire care team to provide comprehensive, seamless care.
Genetic and Metabolic Conditions We Treat
We evaluate and care for a wide range of pediatric genetic conditions.
Some of the pediatric genetic and metabolic conditions we treat include: Metabolic disorders
- Phenylketonuria (PKU)
- Maple Syrup Urine Disease (MSUD)
- Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCAD)
- Other amino acid/organic acid/fatty acid oxidation disorders
Lysosomal storage disorders
- Pompe disease
- Fabry disease
- Gaucher disease
- Mucopolysaccharide disorders
General genetic and syndromic disorders
- 22q11.2 deletion syndrome (DiGeorge Syndrome)
- Other chromosomal disorders
- Neurofibromatosis type 1
- Noonan syndrome and other RASopathies
- Marfan Syndrome and related disorders
Pediatric Genetic Testing We Provide
We offer a full range of pediatric genetic testing, including:
- Chromosomal studies
- Targeted genetic tests
- Carrier screening and prenatal testing coordination
- Metabolic testing
- Confirmatory testing after abnormal newborn screens
Your pediatric genetic counselor helps you understand which tests are needed and what results mean.
Clinics and Counseling for Your Child
Your family is supported no matter what genetic need you have.
Your family is supported no matter what genetic need you have.
Genetic Counseling
Pediatric genetic counseling helps you understand your child’s condition, testing options, insurance questions and what results mean for your family. Counseling is available for prenatal concerns, hereditary cancer syndromes, abnormal newborn screens and more.
General Genetics Clinic
Evaluates children and adults with known or suspected genetic syndromes, including developmental delays, birth defects or unusual clinical features. We provide diagnosis, follow-up care and coordinated referrals.
Metabolic Genetics Clinic
Provides diagnosis, treatment and dietary support for metabolic disorders such as PKU or conditions identified through newborn screening.