Diagnostic test: MALATTIA INFIAMMATORIA INTESTINALE

INFLAMMATORY BOWEL DISEASE Panel / Illumina Custom panel, Nextera Enrichment Technology / Coding exons and flanking regions of

List of (s) and disease(s) tested: ABCB1, ALPI, ATG16L1, DUOX2, EPCAM, FOXP3, GAL3ST2, HSPA1L, IL10, IL10RA, IL10RB, IL21, IL23R, IL6, INAVA, IRF5, IRGM, LRBA, NOD2, OTUD1, SKIV2L, TNFAIP3, TRIM22, TTC37, TTC7A, XIAP Malattia intestinale infiammatoria Malattia intestinale infiammatoria, autosomica recessiva, a esordio precoce Malattia di Crohn Colite ulcerosa

Tabella Elenco delle forme di MALATTIA INFIAMMATORIA INTESTINALE e la loro eziologia genetica Phenotype OMIM# Phenotype / HGMD Gene OMIM# mutations database Gene Inflammatory bowel disease 13 612244 ABCB1 171050 Inflammatory bowel disease HGMD ALPI 171740 Inflammatory bowel disease (Crohn disease) 10 611081 ATG16L1 610767 Inflammatory bowel disease, very early-onset HGMD DUOX2 606759 Inflammatory bowel disease, infantile-onset; Inflammatory bowel HGMD EPCAM 185535 disease Inflammatory bowel disease HGMD FOXP3 300292 Crohn's disease HGMD GAL3ST2 608237 Crohns Disease HGMD HSPA1L 140559 Inflammatory bowel disease, very early onset HGMD IL10 124092 Inflammatory bowel disease 28, early onset, autosomal recessive 613148 IL10RA 146933 Inflammatory bowel disease 25, early onset, autosomal recessive 612567 IL10RB 123889 (CRFB4) Inflammatory bowel disease, early-onset HGMD IL21 605384 Inflammatory bowel disease 17, protection against 612261 IL23R 607562 Crohn disease-associated growth failure 266600 IL6 147620 Inflammatory bowel disease 29 618077 INAVA 618051 Inflammatory bowel disease 14 612245 IRF5 607218 Inflammatory bowel disease (Crohn disease) 19 612278 IRGM 608212 Inflammatory bowel disease, infantile-onset HGMD LRBA 606453 Inflammatory bowel disease 1, Crohn disease 266600 NOD2 605956 HGMD OTUD1 612022 Inflammatory bowel disease HGMD SKIV2L 600478 Inflammatory bowel disease, infantile-onset HGMD TNFAIP3 191163 Inflammatory bowel disease HGMD TRIM22 606559 Inflammatory bowel disease HGMD TTC37 614589 Gastrointestinal defects and immunodeficiency syndrome; 243150; HGMD TTC7A 609332 Inflammatory bowel disease, very early onset Inflammatory bowel disease; Crohn's disease HGMD XIAP 300079 HGMD = Gene Mutation Database (https://portal.biobase-international.com/hgmd/pro/start.php?)