Neurogenetics Clinic

The Neurogenetics Clinic at UPMC Children’s Hospital of Pittsburgh has three areas of focus:

  1. Providing the highest quality of care to children and families with neurogenetic conditions.
  2. Testing children without a diagnosis.
  3. Connecting with researchers and colleagues across the world to provide state-of-the-art care for children.

Diagnosing Complex Neurogenetic Conditions

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.

Neurogenetic Disorder Counseling for Kids and Families

Genetic counseling is a crucial part of the diagnosis and treatment of neurogenetic disorders.

Our genetic counselors:

  • Help families at risk learn about genetic disorders and their effects.
  • Provide support and resources.
  • Serve as patient advocates.

Once we confirm a diagnosis, we can provide:

  • Referrals to the right specialists.
  • Genetic counseling.
  • Preventive care.

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.

Searching for New Ways to Treat Genetic 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.

Referrals to the Neurogenetics Clinic

For details about referrals to the Neurogenetics Clinic at Children's Hospital, call 412-692-5520.