Product Description
The CleanPlex® Familial Hypercholesterolemia Panel is a multiplex PCR-based targeted resequencing assay designed to simplify the evaluation of germline variants across the 4 genes (APOB, LDLR, LDLRAP1, PCSK9) related to Familial Hypercholesterolemia. The panel targets all exonic regions of those 4 genes and the flanking intronic sequences. Compatible with just 10 ng of DNA, sequencing-ready libraries can be prepared using a streamlined workflow in just 3 hours. The panel is optimized to deliver data with high on-target performance and high coverage uniformity to ensure efficient use of sequencing reads.
The CleanPlex Familial Hypercholesterolemia Panel contains CleanPlex Multiplex PCR Primers and CleanPlex Targeted Library Kit. CleanPlex Indexed PCR Primers and CleanMag® Magnetic Beads can be ordered separately to complete the workflow from input DNA to sequencing-ready NGS libraries.
Storage Temperature
Store at -20 °C.
For Research Use Only. Not for use in diagnostic procedures.
Gene List:
APOB, LDLR, LDLRAP1, PCSK9
References:
Bertolini S, et al. Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. Atherosclerosis. 2013 Apr;227(2):342-8.
Andersen L, Ibarra J, Andersen R. Current familial hypercholesterolemia diagnostic criteria underdiagnose APOB mutations: Lessons from the Amish community. J Clin Lipidol. 2016;10:443–4.
Sjouke B, et al. Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome. Eur Heart J. 2015 Mar 1;36(9):560-5.