Undiagnosed Genetic Disease Clinic

The Undiagnosed Genetic Disease Clinic serves people of all ages who have a suspected genetic condition but remain undiagnosed despite an extensive clinical workup. We are dedicated to providing answers to our patients with undiagnosed medical conditions, in addition to better understanding genes and discovering new genes that can cause the disease.

Our team of medical geneticists, clinical specialists, genome scientists and genetic counselors:

• Provide diagnostic services, including reassessment of previous test results

• Identify and enroll eligible patients into our research study which uses technologies not available on a clinical basis to diagnose genetic disorders

• Educate patients and their families about the results of their evaluation and diagnosis

• Provide information on community resources and services to support patients and their families

The clinic accepts both self and/or physician-initiated referrals. For more information, please review the clinic information on the Waisman Center website.