P266: Diagnostic insights into adults with pediatric onset disorders: Findings from the Undiagnosed Diseases Network
Abstract
Undiagnosed adults presenting to genetics clinics often require exome and genome sequencing (ES/GS) to help identify the underlying cause of their condition. However, many insurance companies deny these tests based on the patient’s age, despite the presence of symptoms that began in childhood. As a result, these individuals are frequently denied access to diagnostic methods that could reduce uncertainty, prevent misdiagnosis, and improve treatment outcomes. One of the primary goals of the Undiagnosed Diseases Network (UDN) is to provide access to comprehensive clinical evaluations, including ES/GS, for participants who have not had the opportunity to undergo these evaluations previously.
Fields of Study & Subjects
Genomics and Rare Diseases
Connective tissue disorders research
Metabolism and Genetic Disorders
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103760–103760
- Publication date
- 1 January 2026
- Language
- EN