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Some children are born with differences in body structure, brain development, or body chemistry that can lead to problems with health, development, school performance, and/or social interaction. Our pediatric genetics team is committed to providing comprehensive services in the diagnosis, treatment and management of known or suspected hereditary disorders and birth defects affecting newborns, children and adolescents.

Overview

Pediatric geneticists specialize in diagnosing, managing, and counseling families about genetic conditions including birth defects, developmental delays, metabolic disorders and inherited conditions. To ensure continuity of care, our team works closely with your family pediatrician and other specialty care services.

Conditions we treat

We use the history and physical exam, in addition to comprehensive or targeted genetic testing to determine if there is an identifiable genetic explanation for a medical problem. The pediatric genetic specialists at St. Luke's treat the following—and more:

  • Autism spectrum disorders
  • Birth defects
  • Chromosomal disorders
  • Connective tissue disorders
  • Craniofacial differences
  • Developmental delays or intellectual disabilities
  • Growth problems
  • Hearing or vision impairments
  • Neurocutaneous disorders
  • Pediatric cancer predisposition conditions
  • Skeletal dysplasias
  • Single gene disorders
  • Vascular and overgrowth conditions

Family-centered care

At St. Luke’s, you and your family are members of your child’s care team. That’s why we make receiving care easy and accessible. Our comprehensive care model includes several key features:


Convenient location
We offer genetic services at St. Luke’s Pediatrics Specialty Center.

Translation services
We provide translators (as needed) to ensure clear and comfortable communication.

Available provider support
MyChart - our electronic health record portal provides access to your child’s care team to answer your questions or address non-emergent concerns, see test results and more.

Find a Pediatric Geneticist

Call 484-658-KIDS (5437) to find the specialized care your child needs close to home.

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