Undiagnosed Diseases Program

The Undiagnosed Diseases Program (UDP) seeks to meet the needs of patients with severe chronic medical conditions in whom a diagnosis has not been made despite extensive efforts by the referring physician. Achieving an accurate diagnosis can be instrumental in guiding management, treatment, and counseling.

Our program is powered by UAB MedicineChildren’s of Alabama and HudsonAlpha Institute for Biotechnology, a collaboration that provides input from a team of expert clinicians and utilizes cutting-edge genetic and genomic technologies, in a concentrated effort to uncover a diagnosis and thus determine and recommend effective treatment.

The UDP is part of the NIH Undiagnosed Diseases Network (UDN), and, as such, has access to advanced diagnostic capabilities and expertise of the entire Network.

Patient Population

The UDP strives to meet the needs of patients of all ages. The program is designed to explore conditions amenable to advanced diagnostic evaluation and is not appropriate for evaluation of some chronic conditions such as fatigue, weight loss, fibromyalgia, and diffuse pain.

It is also not intended for initial evaluations, but rather for patients who have already had extensive evaluations that did not lead to a diagnosis.

Determination for Evaluation

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.

Prospective patients must meet the following criteria:

  • Are clinically stable and not acutely ill (requiring urgent evaluation and/or management in an acute setting)
  • Have had an extensive evaluation not resulting in a diagnosis
  • The condition prompting the referral must be causing significant impairment to quality of life (organ dysfunction, constitutional symptoms, or loss of function) and must be of at least six months duration.
Referral Process
  1. Patients can apply directly to the UDN through the UDN Gateway.

Physicians can also send a referral directly to the UAB UDP by completing a form.

  1. Referrals will be reviewed by UAB UDP staff. Medical records will be gathered and reviewed and some patients may have an initial telemedicine or in-person visit to verify their eligibility to be evaluated in the program. Those deemed eligible for a full evaluation will be asked to complete an application to the UDN Gateway and provide informed consent for participation.
  2. Once accepted into the program, clinical evaluations with UDP physicians will be arranged and appropriate medical tests ordered. All clinical visits and tests will be billed in the usual manner. There is no charge, however, for submission of medical records for consideration for evaluation in the program.
  3. Following evaluation, the patient and referring physician will be sent a summary of the evaluation. If a diagnosis is established, treatment and management recommendations will be made, to be coordinated by our facility and/or per the patient’s local providers, according to each patient’s needs and the available resources.

    IMPORTANT: The UDP does not assume ongoing care for patients, either during the evaluation or following determination of a diagnosis.
Financial Issues

The UAB UDP is a clinical program, not a research program. As such, it is unable to provide free care and therefore 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, however.

Clinic Location and Hours

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

Pediatric Genetics clinics are located on the sixth floor of the Dearth Tower in the McWane Building.

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

Adult genetics clinics are located on the first floor of the Kirklin Clinic

Kirklin Clinic (1st Floor)
2000 6th Avenue S
Birmingham, AL 35233

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