Undiagnosed Disease Program

The Undiagnosed Disease Program (UDP) at CHOP offers personalized care for families who are struggling to pinpoint the cause of their child’s symptoms. The UDP harnesses the knowledge of clinical and research experts from across CHOP plus the power of comprehensive genetic analysis and other advanced diagnostic tools to improve diagnosis and treatment of undiagnosed diseases.

If your child is still undiagnosed after seeing multiple experts and you have a long list of inconclusive or negative test results, we can help. The UDP was built to provide families the medical guidance they need after they’ve exhausted other diagnostic options.

Our multidisciplinary team will review your child’s past test results and utilize specialized diagnostic tools to help understand your child’s condition. We’ll then connect your family with a clinical expert who will be able to map the best path forward for management and treatment.

Before contacting the UDP, review our checklist to make sure you’ve already taken all the necessary steps.

Review the UDP Checklist

Diagnosing Kagami-Ogata syndrome (KOS): Luna’s Story

Finding a Diagnosis

We understand that it can sometimes be a long journey to find your child’s diagnosis. In the UDP, we can help shorten the diagnostic odyssey, build a plan and find your child a medical home.

Get Started


Programs & Services

You may already have a diagnosis but are looking for a second opinion or to connect with a specific department. We’ve compiled some helpful links for you:

Not finding what you are looking for? Call the UDP team at 267-425-3949 or contact us online, and we will help you identify the best fit.


Learning More About the UDP

Whether it’s about the value of genetic testing, how we work with the National Institutes of Health (NIH), or the research being done in our department, there’s so much to share about CHOP’s Undiagnosed Disease Program.

More About UDP


Support the UDP

Groundbreaking programs like the UDP are made possible by generous financial donors. We need your ongoing support to continue to solve medical mysteries and provide answers for families struggling with diagnostic odysseys.

Our Team

Experts across Children's Hospital of Philadelphia take a team approach to your child's diagnosis and care. This allows us to more quickly respond to your questions and concerns.

Next Steps