Diagnosis

Treating disease begins with an accurate diagnosis. That can be challenging given that there are at least 6,500 extremely rare genetic diseases, some affecting only a handful of people in the world. Even common conditions can present in highly unusual ways, making diagnosis difficult. UAB Precision Medicine leverages our nationally recognized expertise in traditional medicine with advanced screening technology and genetic and genomic testing to help ensure that elusive conditions are properly identified.

UAB Precision Medicine offers diagnostic services for rare disorders as well as conditions associated with a range of medical specialties:
  • Rare Diseases: Individuals with rare, undiagnosed disorders can feel alone and isolated in the medical system while pursuing a frustrating “diagnostic odyssey.” UAB Precision Medicine offers comprehensive evaluations of rare disorders, including multidisciplinary assessments and the use of state-of-the-art technology, up to and including whole genome sequencing. UAB’s genetics clinics provide assessment of individuals with potential genetic conditions, and our Undiagnosed Diseases Program provides diagnostic services to help diagnose the rarest of rare conditions. Determining a diagnosis can open the door to individualized condition management, genetic counseling, and, in some cases, a highly customized treatment plan.
  • Medical Specialty Diagnostic Services: Precision diagnostic approaches can now be used in a variety of medical specialty services to better identify certain conditions, including cardiovascular disease, neurological disorders such as epilepsy, Parkinson’s disease, Alzheimer’s disease, and many others. Genetic counselors can arrange for specialized genomic tests and provide interpretation and counseling based on results.