Genetics - Patient Care and Treatment

Genetics - Patient Care and Treatment

Learn about genetic testing and counseling services at Penn State Children’s Hospital.

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Genetic evaluation

Genetic disorders are health conditions caused by a change in your genes.

Genetic testing can confirm or rule out genetic disorders, and identify your risk of developing or passing on a genetic disorder to your children.

Genetic testing maybe appropriate for a personal  or family history of:

  • Birth defect (problem that happens when a baby is developing in the mother’s body)
  • Blindness
  • Chromosome disorder (too much or too little chromosome material)
  • Deafness
  • Dysmorphic features (unusually shaped body part)
  • Health problems running in the family
  • Intellectual disability (mental delay) or autism (social interaction delay)
  • Metabolic disorder (problem with chemical reactions in the body)
  • Short stature (much shorter than other children the same age and sex)

Our services

Our care team includes clinical geneticists and licensed genetic counselors. We work with kids and adults to:

  • Study your family health history
  • Find out if you have a genetic condition
  • Make sure the right medical care is provided
  • Figure out if you could pass on a condition to your children
  • Provide information and support if you have a disorder
  • Communicate with your referring doctor(s)
  • Make a plan for more tests if needed, depending on what we find out

Contact us

Phone: 717-531-6403
Fax: 717-531-0276