Monogenic inflammatory bowel disease

Determining a definitive diagnosis

 Unlike patients with polygenic inflammatory bowel disease (IBD), most patients with monogenic IBD show symptoms before age 6. Because monogenic and polygenic IBD can have indistinguishable endoscopic or histologic features, establishing accurate diagnosis via traditional methods remains a challenge.1

Monogenic IBD Test menu

Monogenic IBD

Genetic testing can identify patients with monogenic IBD and primary immunodeficiencies that present with IBD-like features. Isolating the genetic cause of the illness enables clinicians to choose treatment options that enhance outcomes. Our comprehensive monogenic IBD panel detects variants in 107 genes with established associations to monogenic IBD and primary immunodeficiencies that present with IBD-like features but do not respond to standard IBD treatments. This includes testing for genes associated with rare diseases, such as Mediterranean Fever, with increased prevalence in certain ancestral groups.

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 are interpreted by a team of experienced laboratory directors and genetic counselors who classify variants detected using American College of Medical Genetics and Genomics/Association for Molecular Pathology guidelines.
  • Includes detailed reports that contextualize findings to provide clarity on disease presence, providing ordering physicians the autonomy 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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