Undiagnosed Diseases Program

UAB Medicine’s Undiagnosed Diseases Program (UDP) evaluates and cares for patients who have a severe, chronic medical condition that has not been diagnosed despite extensive efforts by other physicians. Staffed by a team of experienced doctors, the program utilizes advanced technology in the areas of genetics and genomics (the study of DNA for medical purposes) to determine a diagnosis and recommend effective treatment. Our program is powered by UAB Medicine, Children’s of Alabama, and HudsonAlpha Institute for Biotechnology , a collaboration designed to bring a “personalized medicine” approach to diagnosing rare and undiagnosed disease. Personalized medicine is a way of providing health care in which medical decisions, treatment options, and prescribed drugs are chosen based on the patient’s individual genetic makeup.

Two separate clinics have been established: one within the UDP, which is housed in the Kaul Human Genetics Building at UAB, and the other is located at the Smith Family Clinic for Genomic Medicine at HudsonAlpha in Huntsville. In early 2016, UAB Medicine will open two new clinics to better accommodate patients and families. Adult patients will be seen at the UDP clinic in The Kirklin Clinic of UAB Hospital, and pediatric patients will be seen at Children’s of Alabama.

UDP Clinic Location and Hours

Kaul Human Genetics Building

720 20th Street South
Birmingham, AL 35294
Monday-Friday 7:30 am – 4:30 pm
Phone 205.934.4983
Fax 205.934.4111

The UDP accepts patients of all ages, but it generally limits its services to patients with rare diseases, conditions not previously known to exist, and common diseases or disorders that develop in unusual ways. Despite evaluation by the UDP team, it is possible that a diagnosis will not be made. If the UDP staff anticipates that it will not likely be able to make a diagnosis, it may recommend alternative programs within UAB Medicine that may be able to help the patient.

Requirements for acceptance in the UDP include:

  • Patients must be referred by a physician; self-referrals are not accepted.
  • Patients must have had an extensive evaluation that did not result in a diagnosis
  • The condition prompting the referral must be significant in terms of organ dysfunction, major symptoms, or loss of function
  • Patients must be clinically stable and not in need of urgent evaluation and care.
  • The duration of the condition must be six months or longer.
  • The UDP medical staff, upon evaluation of the patient’s status, must determine that our resources and expertise offer the opportunity to reach a diagnosis, beyond what has already been done.
  • The UDP is a clinical program, not a research program. As such, it is unable to provide free care, so clinical services associated with the program are billed in the usual way. The UDP staff will work with patients and insurance companies to obtain preauthorization for any consultations, tests, or procedures done as part of the patient evaluation and will work with patients who do not have health insurance on a case-by-case basis. There is no charge to submit medical records for consideration for evaluation in the program.

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