Alagille Syndrome

New high-throughput assay enhances diagnosis of Alagille syndrome

The development and application of a high-throughput assay to measure JAG1 membrane expression significantly improves the classification of JAG1 gene variants, reducing diagnostic uncertainty for Alagille syndrome and enhancing molecular diagnosis, according to a study. Currently, up to 85% of JAG1 missense variants have uncertain or conflicting classifications. To address...