Molecular Diagnosis of Wilson Disease: A Clinical Guide

In clinical practice, the diagnosis of Wilson disease (WD) remains challenging because no single biochemical or clinical test achieves high enough sensitivity and specificity across disease stages and presentations. Genetic testing has therefore become a central component of contemporary WD diagnostics. The aim of this article is to guide the clinical use of ATP7B testing in WD, from pretest counseling and test selection to interpretation and post-test management.