Work

P623: Cytogenetic findings in a clinical next generation sequencing panel for very early onset inflammatory bowel disease

Year: 2024

Type: article

Abstract: Inflammatory bowel disease (IBD) is characterized by chronic and recurrent inflammation in the gastrointestinal tract caused by defects in the intestinal mucosal barrier function. Very early onset inflammatory bowel disease (VEO-IBD) is the predominant monogenic form of all IBDs and is defined as IBD with an age of onset below six years. VEO-IBD is a genetically heterogeneous disease; therefore, genetic testing of children with VEO-IBD is often performed via genome-wide (genome or exome) next generation sequencing (NGS) platforms in which all genes are sequenced but only a panel of selected relevant genes is analyzed.

Source: Genetics in Medicine Open

DOI: 10.1016/j.gimo.2024.101529