We report the design of a targeted resequencing panel for monogenic dyslipidemias,
LipidSeq, for the purpose of replacing Sanger sequencing in the clinical detection of
dyslipidemia-causing variants. We also evaluate the performance of the LipidSeq approach
versus Sanger sequencing in 84 patients with a range of phenotypes including extreme
blood lipid concentrations as well as additional dyslipidemias and related metabolic
disorders. The panel performs well, with high concordance (95.2%) in samples with known�…