Inflammatory bowel disease (IBD) [45 genes]

Inflammatory bowel disease (IBD) encompasses a heterogeneous group of chronic inflammatory disorders that affect the gastrointestinal tract. There are three main phenotypes within this group: Crohn’s disease (CD), ulcerative colitis (UC) and unclassified IBD. Alterations in gut microbiota, environmental factors, and immune or genetic defects (Th lymphocyte dysregulation, defective cell autophagy processes, or altered inflammatory signals) are associated with the development of IBD. While it usually appears in young adults, early onset cases are also common during childhood or in the neonatal period; these are characterized by more severe phenotypes. It has been estimated that 25-30% of pediatric IBD cases have a positive family history, which suggests the existence of a variable hereditary component that would support the indication for genetic testing.

  • Diarrhea
  • Bowel inflammation
  • Multisystem abnormalities
  • Intestinal villous atrophy
  • Eosinophilia of the mucosa

  • Uknown (monogenic forms)
  • ~1:1.000 (CD)
  • ~1:1.000 (UC)

  • Diagnosis and genetic counseling
  • Monoclonal antibodies against IL-12
  • Immunomodulators
  • Anti-inflammatories

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1. Download & fill out

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2. Sample collection

Three sample types: saliva, peripheral blood or genomic DNA

3. Pack the sample

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4. Send the sample & the request

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5. Result: the report

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Inflammatory bowel disease (IBD)

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202110283

Inflammatory bowel disease (IBD): View panel
  • ABCB1
  • ADAM17
  • ALPI
  • ARPC1B
  • ATG16L1
  • BACH2
  • C17orf62
  • CALCOCO2
  • CARD11
  • CARD14
  • CARD9
  • CCDC88B
  • CD55
  • EGFR
  • EPCAM
  • FAT4
  • GUCY2C
  • IL10
  • IL10RA
  • IL10RB
  • IL18R1
  • IL23R
  • IL6
  • IRF2BP2
  • IRF4
  • IRF5
  • IRGM
  • MST1
  • NFKBIA
  • NOD2
  • OTULIN
  • PTPN2
  • PTPN22
  • RIPK1
  • SIAE
  • SKIV2L
  • SLC9A3
  • SPINT2
  • STAT3
  • STAT4
  • TGFB1
  • TNFSF15
  • TRIM22
  • TTC7A
  • XIAP

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

References

  1. Bianco AM, Girardelli M, Tommasini A. Genetics of inflammatory bowel disease from multifactorial to monogenic forms. DOI: 10.3748/wjg.v21.i43.12296
  2. Gajendran M, Loganathan P, Catinella AP, Hashash JG. A comprehensive review and update on Crohn’s disease. Dis Mon. 2018 Feb;64(2):20-57. Do i: 10.1016/j.disamonth.2017.07.001. Epub 2017 Aug 18.
  3. McGovern DP, Kugathasan S, Cho JH. Genetics of Inflammatory Bowel Diseases. Gastroenterology. 2015 Oct;149(5):1163-1176.e2. doi: 10.1053/j.gastro.2015.08.001. Epub 2015 Aug 7.
  4. Shaw KA, Cutler DJ, Okou D, Dodd A, Aronow BJ, Haberman Y, Stevens C, Walters TD, Griffiths A6, Baldassano RN, Noe JD, Hyams JS, Crandall WV, Kirschner BS, Heyman MB, Snapper S, Guthery S, Dubinsky MC, Shapiro JM, Otley AR, Daly M, Denson LA, Kugathasan S, Zwick ME. Genetic variants and pathways implicated in a pediatric inflammatory bowel disease cohort. Genes Immun. 2018 Mar 28. doi: 10.1038/s41435-018-0015-2.
  5. Uhlig HH, Muise AM. Clinical Genomics in Inflammatory Bowel Disease. Trends Genet. 2017 Sep;33(9):629-641. doi: 10.1016/j.tig.2017.06.008. Epub 2017 Jul 26.