Monogenic IBD

Protecting pediatric patients from misdiagnosis

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

Monogenic IBD

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


  • Helpful for children with early-onset IBD, which typically occurs in children under age 6.
  • Identifies genetic variants in 107 genes with known associations to IBD and immunodeficiency.
  • Can help establish diagnosis and, in some cases, support appropriate management and surveillance for disease features based on the involved gene.
  • Includes testing for genes associated with rare diseases, such as Mediterranean fever, that are more prevalent in certain ancestral groups.
  • Test results include detailed reports that contextualize findings to clarify disease presence, empowering ordering physicians to make a diagnosis based on patient-specific factors.


  1. Lega S, Pin A, Arrigo S, Cifaldi C, Girardelli M, et al. Diagnostic approach to monogenic inflammatory bowel disease in clinical practice: a ten-year multicentric experience. Inflamm Bowel Dis. 2019;20(20):1-8.

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