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 205.934.6583
Fax 205.934.4111

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.

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.

Notes regarding acceptance in the UDP:

• 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.

Resources

• Undiagnosed Diseases Referral Process