logo Click here for the MAMMAG Home Page Click here for the UC Irvine Home Page Click here for the School of Medicine Home Page

Center for Mitochondrial Medicine Research Group

Overview of our Referral Process

Our Location: University of California, Irvine: General Clinical Research Center, Hewitt Hall

Mitochondrial Medicine is a new field, so our program always straddles the interface between the current "standard-of-care" clinical diagnostics and "research" diagnostics. Some patients are referred to us who do not have a molecular diagnosis and need to be evaluated for a mitochondrial disorder. To evaluate such patients, we often need to proceed through a series of steps progressing from the known, and thus clinical, through to the unknown and thus research.

MITOMED is dedicated to improving mitochondrial disease detection and diagnosis. In particular, we are interested in developing noninvasive screening and diagnostic tools to avoid large scale muscle biopsies. We have started to assess, therefore, the possibility of microorganic breath analysis and near infrared spectroscopy as noninvasive screening tools. We are also pursuing intensive investigations in improving molecular detection of heteroplasmic mitochondrial DNA mutations with the Surveyor nuclease approach. All Mitopatients with a molecular diagnosis are welcome to participate in our research in order to help us to establish these noninvasive techniques.

Overview of the MITOMED referral process:

  • Referrals are made to us from physicians inside and outside the UCI system
  • The genetic counselors contact the family and obtain written permission to review medical and family history information in order to initiate a screening process.
  • Cases are then reviewed by a UCI Mitochondrial Medicine Committee (physicians and scientists) at the monthly interdisciplinary meeting.
  • If a patient is thought to likely have a mitochondrial disease and has previously completed all necessary standard of care tests through his/her referring physician he/she is then invited to the General Clinical Research Center (GCRC) for initial evaluation under our research protocol. All other patients who are missing important standard of care tests and have not yet had sufficient exclusion of alternate/differential diagnoses are invited to the UCI Medical Center to see one of our geneticists to complete their file. This is done using insurance carrier funding. Alternative arrangements can be made for patients who are unable to travel to our clinics.
  • During the appointment we explain to the patient and/or family the nature of mitochondrial disease, the types of standard-of-care diagnostic procedures that are available, and the types of clinically relevant data that will be obtained and provided to the patient’s physician and chart.
  • We take the necessary medical and family history and collect samples for routine diagnostic tests that are missing from the patient’s previous evaluations using insurance carrier funding.
  • Depending on the nature and complexity of the case, we then explain that there may be a significant possibility that we may not be able to determine the ultimate molecular cause of their problem. Without a molecular diagnosis, we cannot provide substantive genetic counseling as to who would be at risk in the family for the disease, or give reliable prognostic predictions. We emphasize that while we may not resolve their case by already existing standard of care tests, MITOMED's research program is dedicated to further investigation of their case, free of charge to them. Additional investigations can involve additional clinical, family, biochemical, somatic cell genetic, and molecular genetic studies.
  • Patients may elect for us to take their case further, in the event that it proves necessary. The informed consent form is designed to be flexible and lists all of the procedures that may be necessary for the various types of mitochondrial disease that we have encountered. On the consent we therefore check only the procedures that will be required to evaluate the individual patient and family, and have the patient initial them on the consent form. An additional table is included in the informed consent that indicates which of the tests will be standard-of-care and fee-for-service and which will be research and free.

Click here to download our consent forms and our brochure.

Questions about enrollment? Contact us.