Improved: P062 LDLR – Featuring a New Target Probe for Exon 18 of LDLR

Familial hypercholesterolaemia is a disease marked by elevated low-density lipoprotein cholesterol levels, leading to atherosclerotic plaque deposition in arteries and potentially to coronary artery disease or other cardiovascular complications at an early age. Pathogenic variants in the low-density lipoprotein receptor (LDLR), and to a lesser extent APOB and PCSK9 variants, account for ~60% of FH cases. In the remaining ~40% of FH cases, the underlying genetic defect is unknown.

SALSA^® MLPA^® Probemix P062 LDLR is an assay for the detection of deletions or duplications in the LDLR gene and includes probes targeting all 18 exons of the gene. 

P062 LDLR just received a major update, with the recently released E1 version featuring a new target probe for exon 18 of the LDLR gene. Additionally, several target and reference probes were replaced, ensuring an even more robust assay output. Version E1 is CE-marked under the IVDR.