Undiagnosed Diseases Program

The UAB Undiagnosed Diseases Program (UDP) was established by UAB Medicine in 2013. It provides multidisciplinary diagnostic assessments to children and adults with chronic, undiagnosed medical conditions. State-of-the-art diagnostic testing is provided, including, when indicated, whole genome sequencing to diagnose genetic conditions. The UAB UDP is now recognized as a Diagnostic Center of Excellence by the National Institutes of Health Undiagnosed Diseases Network (UDN). As such, patients seen in the program consent to participate so their data and diagnostic information can be shared with the UDN to take advantage of the expertise and resources of the Network. Diagnostic evaluations are billed to insurance as standard clinical care, though limited funding may be available to cover some costs, such as transportation, for patients in need. Referrals can be made directly to the program (Undiagnosed Diseases Program – Genetics | UAB) or through the UDN (UDN | Undiagnosed Diseases Network | harvard.edu).

UDP Clinic Location and Hours

Kirklin Clinic (3rd Floor)
2000 6th Avenue S
Birmingham, AL 35233

McWane Building (6th Floor, Dearth Tower)
Children’s of Alabama
1600 7th Ave S
Birmingham, AL 35233

Monday-Friday 7:30 am – 4:30 pm
Phone 205.934.4983
Fax 205.934.4111

The UDP accepts patients of all ages, but services are limited 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.

Referral Process

In order to be evaluated by the team, prospective patients must meet essential criteria, which 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
• Condition prompting referral is causing significant impairment to quality of life
• Patients must be clinically stable (i.e., not in need of emergent evaluation and care)
• The medical condition must have had at least 6 months duration
• The UDP medical staff, upon evaluation of the patient’s status, judge that the resources and expertise of the UDP offer opportunities to make a contribution towards a diagnosis beyond what has already been done

Please note, only a limited number of patients who are referred will be evaluated. The principal deciding factor regarding the decision to evaluate a patient is that the UDP has the expertise and resources necessary to possibly achieve a diagnosis. In some cases, the staff may determine that it will be unable to add to an already extensive work-up, in which case we are often able to arrange evaluations in alternative UAB programs. Despite evaluation in the UDP, it is possible that a diagnosis will not be made.

For questions about the referral process, please contact Kaitlin Callaway, MSN, CRNP, NP-C, at 205.996.6583 or Tammi Skelton, CRNP, at 205.975.6337.

Resources

• Undiagnosed Diseases Referral Process