Genetic cholestatic liver disorders are frequently under-recognized in adult practice, where milder phenotypes, atypical manifestations, and overlapping clinical features can obscure the underlying diagnosis and delay appropriate testing. These two practical clinical aids have been developed to help healthcare professionals recognize when a genetic cause should be considered, select an appropriate testing strategy, and interpret genetic findings in the context of the patient’s clinical presentation.
Developed by Dr Carola Dröge and Professor Verena Keitel-Anselmino
Genetic testing in adults with unexplained cholestasis
This practical clinical aid provides an overview of genetic testing approaches, key genes, and adult phenotype clues to support appropriate test selection and interpretation of findings alongside the patient’s biochemical profile, imaging, phenotype, and family history.
Download the genetic testing clinical aid
Genetic testing in adults with unexplained cholestasis:
Patient profile checklist
This quick-reference checklist has been developed to help healthcare professionals identify clinical and family history features that may suggest an underlying genetic cause of cholestasis and prompt timely referral for genetic evaluation and testing.
