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Expert Diagnosis and Care for Kids With Genetic Disorders

Nemours Children's pediatric geneticists help kids with complex conditions grow up healthy. We look for causes of developmental delays, physical differences, growth problems, learning issues and more. This information helps doctors and families make the best possible health decisions.

We use the latest technologies to study genes and how they’re involved in certain conditions. We’re experts in pediatric genetic disorders, including conditions that are present at birth, conditions that affect the brain, rare syndromes that have many symptoms at once, and many more.

Our team knows how genetic conditions can affect a child. We help doctors plan and manage care. We also tell you what to expect as your child grows and develops. Because some genetic disorders can be passed down through families, we may involve other family members too.

At Nemours, our team is actively researching new and improved genetic tests and treatments. This means we’re helping kids everywhere with certain diseases live better, and longer.

Find Genetic Care From Nemours

We have many pediatric genetic specialists and locations — find the care closest to you:

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Living With a Genetic Condition

Kids can be diagnosed with a genetic condition at any age. Our genetics teams explains what it means and how they can help.

What’s a genetic test? Find out from Nemours experts at KidsHealth.org.
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Want your child to know more about genes and genetic disorders? Get answers in this article for teens.
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Conditions & Treatments

We see a wide range of conditions — far too many to list here. The conditions we treat vary depending on the location and providers selected. Don’t see a condition listed? Call us.

Pediatric Genetic Expertise You Can Trust

Our team includes geneticists, genetic counselors, nurses and others who are skilled in pediatrics. We partner with your child’s doctors and your family. We guide treatment decisions and help you every step of the way.

Delaware Valley/Philadelphia Highlights

  • Our onsite Nemours Molecular Diagnostics Lab uses the latest technologies. We can diagnose more than 30 genetic diseases, right here where your child gets care. We can also save DNA for future use. This may mean fewer times your child needs to come in for sample collection.
  • We’re one of the only pediatric hospitals in the country to offer research-based care for kids with RASopathies. We’re part of a team of experts in a set of genes called RASopathies, which include Costello syndrome, Noonan syndrome, neurofibromatosis type 1 and other conditions. We lead research and offer advanced treatments you can’t find everywhere.
  • Our team is part of world-renowned care for kids with many different genetic diseases. We offer unmatched expertise in programs for skeletal dysplasia, Down syndrome, X & Y chromosome variations and more.

 

2,990+

Patients we see each year at Nemours

30+

Number of genetic conditions we test for at our onsite lab

28

Average number of children with Down syndrome we see each month

Florida Highlights

  • We make it easy with online video visits. For your convenience, families far from Orlando can see a genetic specialist with our easy-to-use telehealth option. Whether it’s an introductory conversation, follow-up visit, or a discussion about test results, we can often save you travel time with our secure video connection.
  • We teach genetics. We help train the next generation of genetic specialists through our affiliation with University of South Florida, which as the only genetic counselors training program in Florida.
  • We give answers and guidance. Our genetic counselors help doctors know the best tests to perform. We share what the results mean for your growing child, and your family.
  • We can help kids grow up healthy. Genetic information can give us clues to look for medical problems in the future. This may help your child grow up as healthy as possible.

 

2,990+

Patients we see each year at Nemours

30+

Number of genetic conditions we test for at our onsite lab

28

Average number of children with Down syndrome we see each month

Our Highlights

  • We use advanced genetic testing and analysis techniques. We use the latest methods to find or assess risk for genetic conditions in kids. In the Delaware Valley, testing is done onsite.
  • We provide team-based care with renowned Nemours programs. Our genetic experts are involved in Nemours programs in cardiology, orthopedics, hematology, oncology, neurology and endocrinology.
  • We help with family planning. Whether you’re pregnant now, or thinking about starting a family, we’re here for you. We work with our fetal and perinatal care programs to help families plan for the future. We also offer genetic pre-adoption evaluations.
  • We can help kids grow up healthy. Genetic information can give us clues to look for medical problems in the future. This may help your child grow up as healthy as possible.

2,990+

Patients we see each year at Nemours

30+

Number of genetic conditions we test for at our onsite lab

28

Average number of children with Down syndrome we see each month