Abstract
Background and Aims : Familial hypercholesterolemia (FH) is an autosomal dominant disorder characterized by elevated low-density lipoprotein cholesterol (LDL-C) levels and premature cardiovascular disease (CVD). Current methods for genetically confirming FH are expensive and time-consuming. In this study we set out to validate a low cost, high throughput genotyping array, dubbed GOALL-GSA_v1, developed to detect known FH-causing single-nucleotide variants (SNVs), small indels and copy number variations (CNV) (∼€30 per sample) in a cohort of genetically diagnosed FH patients.
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