Application of a next-generation sequencing (Ngs) Panel in 128 patients with idiopathic cholestasis: preliminary results

Introduction: The use of next generation sequencing (NGS) to find genetic variants underlying acute, chronic or episodic cholestatic liver disease (CLD) is increasingly common (Zheng et al., Hepatology, 2022). While monogenic genotype – phenotype correlations have been described in paediatric intrahepatic cholestasis (van Wessel et al., J Hepatol, 2020), disease aetiology is less clear in later-onset cases of CLD. Here we present data from eight years of NGS analysis of patients with idiopathic CLD using a "cholestasis NGS panel" covering 24, later 32 transcripts.