Inflammatory Bowel Disease (IBD) panel [26 genes]

Inflammatory bowel disease (IBD) is a heterogeneous group of chronic inflammatory disorders affecting the gastrointestinal tract. There are three main phenotypes that include Crohn’s disease (CD), ulcerative colitis (UC) and IBD unclassified (IBDU).  Defects of the gut microbiome, environmental factors, and immunological and genetic defects (Th cell dysregulation, impaired autophagy, or chronic inflammatory signalling) are associated with IBD development. IBD usually occurs in young adults, but cases with childhood and neonatal onset are frequently characterized by a more severe phenotype. It is estimated that 25%-30% of pediatric IBD patients have a positive family history, supporting the indication for genetic testing. Our approach focuses on monogenic disorders and also includes genetic alterations that confer susceptibility for disease development.

Clinical features

  • Villous atrophy
  • Diarrhoea
  • Bowel inflammation
  • Mucosal eosinophilia
  • Multisystemic abnormalities

Prevalence

  • Unknown for monogenic forms
  • ~1:1,000 (CD)
  • ~1:1,000 (CU)

Service benefits and management

  • Monoclonal antibodies against IL-12
  • Immunomodulators
  • Anti-inflammatory drugs
  • Genetic counselling
  • Accurate diagnosis and phenotype-genotype correlation

ABCB1, ADAM17, ARPC1B, ATG16L1, CALCOCO2, CCDC88B, EGFR, EPCAM, GUCY2C, IL10, IL10RA, IL10RB, IL23R, IRF5, IRGM, MST1, NOD2, OTULIN, PTPN2, PTPN22, SLC9A3, SPINT2, STAT3, TNFSF15, TTC7A, XIAP

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