Genetic evaluation of patients with undiagnosed diseases

Are you eligible to participate in this study?

You may be eligible for this study if you meet the following criteria:

  • Conditions:
    Undiagnosed Genetic Disease
  • Age: Between 0 - 120 Years
  • Gender: Male or Female
  • Other Inclusion Criteria:
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  • Subjects with clinical, laboratory, or imaging findings suggestive of a genetic disease but without molecular confirmation of a diagnosis.
  • Subjects with rare and unexplained clinicopathologic findings.
  • Subjects with molecular or prior genetic findings that do not fully explain the clinical picture.
  • Subjects who have already had genetic sequencing performed, but who wish to have their sequencing data reanalyzed as part of this study, along with additional studies if necessary.

You may not be eligible for this study if the following are true:

    1. Subjects with a genetic diagnosis that is already confirmed.
    2. Subjects with a condition for which targeted genetic or clinical testing would be more suitable.
    3. Subjects with findings suggestive of a disease that is not genetic.
    4. Subjects who present without objective clinical findings.



If you are registered as a volunteer, please log in to contact the study team/express interest in this study.

Contact the research team to learn more about this study.

By clicking "Contact Research Team", your contact information will be sent securely to the research staff associated with the study. You will also receive a copy of this email in your inbox, as well as other notifications to determine your participation status in the study.