Wilson’s Disease ATP7B

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Using oligonucleotide probe hybridization, enrichment of the coding exons, flanking intronic and untranslated regions (5′ and 3′), as well as known pathogenic variants (HGMD 2018.1) in the promoter and deep intronic regions of the genes specified above is performed, followed by next-generation sequencing with >50X coverage at every target base. Sanger sequencing confirms all pathogenic and novel variants, as well as variants of unknown (indeterminate) significance, as determined bioinformatically. Sanger sequencing will fill in the 50X regions. On request, a detailed list of non-coding variants is available.

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