Review
Open access
Jul 2026
Use of Next-Generation Sequencing and Whole-Exome Sequencing in the Diagnosis of Adult-Onset Familial Intrahepatic Cholestasis: Challenges in Interpreting Variants of Uncertain Significance
Comprehensive genetic testing significantly enhances diagnostic accuracy, informs prognosis, and guides individualized management in adults with cryptogenic cholestasis, highlighting the need for multidisciplinary interpretation integrating clinical, biochemical, and genetic data.
Amalia Conti, F. Gabrielli, S. Ferrari et al.
· Diagnostics · 0 citations