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Familial defective apolipoprotein (apo) B-100 is an autosomal codominant disorder associated with hypercholesterolemia and an increased risk of coronary artery disease. Two independent mutations affecting the codon 3500 (Arg 3500 →Gln and Arg 3500 →Trp) have been shown to cause ligand-defective apo B-100. Identification of carriers of these mutations is an important step in the risk stratification of individuals and families with hypercholesterolemia.

Evaluation of the Roche Diagnostics LightCycler-Apo B 3500 Mutation Detection Kit