Whole Exome Sequencing for Diagnostic Odyssey Cases Evaluated at the Individualized Medicine Clinic


About this study

The purpose of this study is to test a new set of technologies called Next Generation Sequencing (NGS) that may help identify possible genetic reasons for your medical condition. NGS is a procedure that looks at all of your genes (the genetic material you have inherited from your parents) in different ways. Right now, clinical NGS is only done in outside clinical labs. In this study, Mayo Clinic is developing procedures to perform and interpret NGS in its own clinical labs. We also want to store samples and genetic information for future research.

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Inclusion Criteria

  • Patient must have evidence of a genetic condition or a suspected genomic disorder for which previous testing has not provided a diagnosis, or be a biological family member of such a patient.
  • Patient/family member is willing to undergo session(s) with a genetic counselor (GC).
  • Patient must understand and provide written informed consent and HIPAA authorization prior to initiation of any study-specific procedures. For a pediatric patient and patient without capacity to consent for him/herself, parents or legal guardians must understand and provide written informed consent and HIPAA authorization prior to initiation of any study-specific procedures.
  • Participants of any age are eligible to participate.
  • Pregnant women may participate in this research study.Should research results be returned that would have implications for offspring the participant will be offered genetic counseling.

     Exclusion Criteria

  • Patient who has an uncontrolled concurrent illness including psychiatric illness, or situations that would limit compliance with the study requirements or the ability to willingly give written informed consent, and who does not have a legal guardian who will take responsibility for ensuring compliance with study requirements and can provide consent on his/her behalf.
  • Family member participants will not be eligible for research study if the proband/surrogate declines participation.


Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location Status Contact

Scottsdale/Phoenix, Ariz.

Mayo Clinic principal investigator

Radhika Dhamija, M.B.B.S.

Open for enrollment

Contact information:

Shanann Avelar

(480) 342-6025


Rochester, Minn.

Mayo Clinic principal investigator

Konstantinos Lazaridis, M.D.

Open for enrollment

Contact information:

Center for Individualized Medicine


More information


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