Molecular Diagnosis of Wilson Disease: A Clinical Guide.

Authors

Dorte L Lildballe, Anne Grosen, Thomas D Sandahl, Michael L Schilsky

Published in

Gastroenterology clinics of North America. Volume 55. Issue 4. Pages 639-652. Epub Sep 11, 2026.

Abstract

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.

PMID:
42933938
Bibliographic data and abstract were imported from PubMed on 27 Oct 2026.

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