UW Undiagnosed Genetic Diseases Program

Inclusion Criteria: * The applicant has a condition that remains undiagnosed despite thorough evaluation by healthcare providers (including clinical genetic testing). * The applicant has at least one objective finding that is likely to have an identifiable genetic etiology. * The applicant likely has a currently undescribed/new genetic condition or a known genetic condition associated with a novel gene. * The applicant/legal guardian agrees to the collection, storage and recurrent sharing of coded information and biomaterials for research and diagnostic purposes both within and outside of the University of Wisconsin-Undiagnosed Diseases Program (UW-UDP) * The applicant/legal guardian agrees to receive secondary findings from genetic testing. * The applicant/legal guardian has sufficient proficiency in English to understand the consent. Exclusion Criteria: * The applicant already has a diagnosis that explains the objective findings. * A specific diagnosis is suspected and a standard clinical workup performed by the referring/primary care provider would be appropriate. * The UW-UDP is unlikely to improve on the comprehensive workup the applicant has already received. * The applicant's symptoms are likely multifactorial or due to a non-genetic cause.