Targeted NGS assay for comprehensive detection of known and unknown variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Independent, unidirectional primers amplify large genomic regions, enabling detection of select intronic variants and exonic mutations as well as large deletions that would otherwise be difficult to detect with opposing primer techniques. Bidirectional coverage reduces allele dropout, increasing your chances of capturing previously unknown variants. This fast and easy-to-use lyophilized workflow is practical and economical for resource-limited communities and is thus suitable for global, pan-ethnic CFTR mutation profiling. Starter Kit available for new users and includes discounted VariantPlex kit, MBC adapters, PreSeq QC Assay and fusion controls.
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