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.