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March 6, 2026Neurology Genetics0 citationsOpen Access

Precision Diagnosis of Wilson Disease Using a MultiGene Panel

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JLJie LinYWYouliang WangYQYan Qu

Key Points

  • To assess the effectiveness of a multi-gene panel for diagnosing Wilson disease.
  • Custom next-generation sequencing panel designed for the ATP7B gene and 10 related genes.
  • Evaluation conducted on patients with clinical suspicion of Wilson disease.
  • Comparison of conventional genetic diagnostics with the new panel.
  • The multi-gene panel increased detection rates of variants associated with Wilson disease.
  • Conventional methods missed several intronic and structural variants.
  • Faster and more accurate diagnosis was achieved using the next-generation sequencing approach.

Abstract

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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Cite This Study

Lin et al. (2026) studied this question.

synapsesocial.com/papers/69aa7008531e4c4a9ff59704https://doi.org/10.1212/nxg.0000000000200360
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