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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.
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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.

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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.

See Our Providers

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

General genetic and syndromic 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.

Collaboration with Other Medical Teams

The pediatric genetics team works closely with:

This teamwork ensures your child receives the right expertise at every step.

Ask for a Referral

Need compassionate and effective genetic services for your child? Contact your primary care provider about a referral to UICOMP pediatric genetics. Need a primary care provider? Browse our directory.
 
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