Listen to the original Test in Focus audio interview.

Patients with a diverse spectrum of rare genetic disorders can present with inflammatory bowel disease (IBD). These patients often develop symptoms during infancy or early childhood, along with endoscopic and histological features of Crohn’s disease, ulcerative colitis, or unclassified forms of IBD. Our inflammatory bowel disease primary immunodeficiency panel identifies variants within genes known to be associated with IBD and immunodeficiency that can help establish a diagnosis and, in some cases, allow for appropriate management and surveillance for disease features based on the gene involved.

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.

Testing

When to Order

  • Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of IBD, enteropathy, hepatic PID, or intestinal manifestation associated with immunodeficiency
  • Establishing a diagnosis and, in some cases, allowing for appropriate management and surveillance for disease features based on the gene involved
  • Identifying variants within genes known to be associated with IBD, enteropathy, hepatic PID, or related disorders allowing for predictive testing of at-risk family members

Specimen Information

Performance Information

Day(s) and Time(s) Test Performed

  • Varies

Analytic Time

  • 4 weeks

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