Objectives: Familial Hypercholesterolemia (FH) is an autosomal dominant disorder caused by mutations in the LDLR, APOB and PCSK9 genes. A recessive form is caused by mutations in the LDLRAP1 gene. More than 1500 mutations have been described worldwide, with a mutation spectrum varying depending on the countries. To screen any population, we decided to develop a kit (SEQPRO LIPO RS) based on Next Generation Sequencing (NGS). In 2013 we launched a NGS Roche 454 based product with CE mark. We describe here part of the validation of this product to obtain the CE mark.