Precision Diagnosis of Wilson Disease Using a MultiGene Panel

Background and Objectives: gene and 10 additional copper metabolism-related genes in patients with clinically suspected WD. Methods: We conducted a prospective cohort study of 144 individuals at our neurogenetic center. Variants identified by NGS were filtered and annotated with in silico tools and classified according to American College of Medical Genetics and Genomics guidelines. Confirmatory Sanger sequencing, multiplex ligation-dependent probe amplification, and reverse transcription PCR assays were performed as needed. Results: . Discussion: Our comprehensive multigene NGS panel enables precise diagnosis of WD by detecting both classical and unconventional pathogenic variants, as well as distinguishing phenocopies. This improved diagnostic accuracy underscores the value of early genetic testing to guide timely intervention, especially in atypical or early-stage cases.