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The Neurogenetics Clinic at UPMC Children’s Hospital of Pittsburgh has three areas of focus:
Many children and families go through a “diagnostic odyssey,” or a long and labor-intensive time making visits to many medical specialists. Each may conduct a different battery of tests and exams to find a cause for a child’s symptoms.
Despite tireless efforts of families and recent advances in testing and treatment of neurogenetic disorders, many children remain undiagnosed.
A top goal of our Neurogenetics Clinic is to properly diagnose children who have complex health conditions.
We take a team approach to your child's clinical assessment and diagnosis that combines advanced care with cutting-edge research.
Genetic counseling is a crucial part of the diagnosis and treatment of neurogenetic disorders.
Our genetic counselors:
Once we confirm a diagnosis, we can provide:
We tailor our treatment approaches based on what's best for the child and the whole family.
With or without a diagnosis, all families will receive counseling and ongoing support and follow-up.
Many of these rare neurogenetic disorders have no set standard of care. But we can draw on a network of researchers locally and around the world with knowledge in specific conditions.
The Neurogenetics Clinic, partnered with the University of Pittsburgh, strives to advance research on neurogenetic disorders.
Our researchers at Children’s Hospital offer cutting-edge translational research, which aims to bridge the gap between the lab and medical care. We also work with other experts and researchers around the world.
People who want to take part in our research program can enroll in our child neurology research registry.
For details about referrals to the Neurogenetics Clinic at Children's Hospital, call 412-692-5520.
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region.
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