The power of NGS: Results from a dedicated sequencing panel of 24 genes in 40 patients with cholestatic liver disease

Background: Cholestasis indicates bile secretory failure, which might be caused by environmental factors and gene variants, or combination of both. Although there is variability in underlying causes of hepatocellular cholestasis, many patients develop cholestasis of unknown etiology and gene mutations of critical hepatobiliary transporters or their regulators may be suspected. Our aim now was to employ next generation sequencing (NGS) to dissect genetic risk factors in adult patients with cholestatic liver injury of unknown etiology. Methods: The full length coding sequences of 24 genes known to be involved in r…