Liver Disease Panel

This panel covers germline testing for patients with suspected or unexpected cholestatic liver diseases in the pediatric or adult population characterized by intrahepatic cholestasis, pruritus, and jaundice. These diseases are caused by defects in genes related to the secretion and transport of bile salts and lipids. The panel targets a heterogeneous group of inherited cholestatic diseases such as Alagille syndrome, Dubin-Johnson syndrome, Gilbert syndrome, intrahepatic cholestasis of pregnancy, or progressive familial intrahepatic cholestasis types 1-4, among others. This panel includes sequence and deletion/duplication analysis of all the listed genes.