Evaluating a gene panel improves diagnosis of Wilson disease, suggesting better patient outcomes.
Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. Conventional genetic diagnostics are low-throughput and may miss intronic, structural, or phenocopy variants, leading to delayed or missed diagnoses. In this study, we evaluate the utility of a custom next-generation sequencing (NGS) panel targeting the full-length ATP7B gene and 10 additional copper metabolism–related genes in patients with clinically suspected WD.
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Lin et al. (2026) studied this question.
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