P266: Diagnostic insights into adults with pediatric onset disorders: Findings from the Undiagnosed Diseases Network

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Authors: Stephanie Bivona, Carson C Smith, Güney Bademci, LéShon Peart, Nicholas A. Borja, Stephan L. Zuchner, Mustafa Said Tekin
Cited by: 0

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