Undiagnosed Diseases Program

UAB Medicine’s Undiagnosed Diseases Program (UDP) seeks to meet the needs of patients with severe chronic medical conditions that haven’t been diagnosed despite extensive efforts by other physicians. The program is a collaboration between UAB MedicineChildren’s of Alabama, and HudsonAlpha Institute for Biotechnology. This approach ensures input from a team of experts, who use cutting-edge genetic and genomic technologies to uncover a diagnosis and then determine and recommend a treatment likely to be effective.

The UDP is part of the National Institutes of Health Undiagnosed Diseases Network (UDN), which gives it access to the advanced diagnostic abilities and expertise of the entire network.

Patient Population

The UDP serves patients of all ages, but only for conditions that can be evaluated using advanced diagnostic methods. It is not meant for chronic conditions such as fatigue, weight loss, fibromyalgia, and diffuse pain.

Also, it is not meant for initial evaluations. The UDP focuses on patients who’ve already been evaluated extensively without resulting in a diagnosis.

Criteria for Evaluation

To accept a patient for evaluation, the UDP must first consider whether it has the expertise and resources necessary to possibly reach a diagnosis.

In some cases, the UDP may determine that it will be unable to add to an already extensive medical workup. In such cases, we may be able to arrange an evaluation by other UAB Medicine programs. Even if a patient is accepted for evaluation by the UDP, a diagnosis isn’t always made.

Patients must meet the following criteria:

  • They’ve already had an extensive evaluation not resulting in a diagnosis.
  • Their condition must be having a serious impact on their quality of life or ability to function, and it must have started at least six months ago.
  • They must be clinically stable and not need urgent medical attention.
Referral Process
  1. Patients may apply directly to the Undiagnosed Diseases Network using the UDN Gateway.

Physicians may refer patients 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 telehealth or in-person visit to verify their eligibility for the program. Patients accepted for a full evaluation will be asked to complete an application via the UDN Gateway and provide informed consent for participation.
  2. Once accepted into the program, clinical evaluations with UAB UDP physicians will be arranged, and appropriate medical tests will be ordered. All clinical visits and tests will be billed in the usual manner. However, there is no charge for submitting medical records to be considered for evaluation by the UDP.
  3. After evaluation, the patient and referring physician will be sent a summary of the evaluation. If a diagnosis is made, treatment and management recommendations also will be made. These will be coordinated by our facility and/or the patient’s local providers, depending on each patient’s needs and the available resources.

IMPORTANT: The UAB UDP does not assume ongoing care for patients, neither during the evaluation nor after making a diagnosis.

Financial Issues

The UAB UDP is a clinical program, not a research program. Therefore, it is unable to provide free care, and 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 they will work with patients who do not have health insurance on a case-by-case basis. There is no charge for submitting medical records to be considered for evaluation by the UDP.

Clinic Location and Hours

Clinic hours: Monday through Friday, 7:30 a.m.-4:30 p.m.
Phone: 205.934.4983
Fax: 205.934.4111

  • The pediatric genetics clinics are located on the sixth floor of the Dearth Tower in the McWane Building, located at Children’s of Alabama hospital.

    McWane Building (6th Floor, Dearth Tower)
    Children’s of Alabama
    1600 7th Ave S
    Birmingham, AL 35233
  • The adult genetics clinics are located on the first floor of The Kirklin Clinic of UAB Hospital.

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

Click here for more information on the UAB UDP.

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