With indistinguishable endoscopic or histologic features, monogenic inflammatory bowel disease (IBD) and polygenic IBD can be difficult to differentiate and accurately diagnosis via traditional methods.1 Despite having a similar presentation to polygenic IBD, however, monogenic IBD doesn’t typically respond to approved IBD therapies. This results in numerous children undergoing unnecessary invasive procedures and potentially harmful treatments.
Monogenic IBD Test menu
Our genetic IBD panel evaluates for variants in 51 genes with established associations to inherited illnesses that resemble IBD but do not respond to standard treatments. A team of experienced laboratory directors and genetic counselors familiar with the latest literature interpret test results and classify detected variants using American College of Medical Genetics and Genomics/Association for Molecular Pathology guidelines.
Key testing
Advantages
Highlights
Ann Moyer, M.D., Ph.D., gives an overview of the inflammatory bowel disease primary immunodeficiency testing available through Mayo Clinic Laboratories. She discusses when this testing should be ordered, how this testing improves upon previous testing approaches, and what clinical action can be taken due to the results of this testing.