Genetic variants in the LPL and GPIHBP1 genes, in patients with severe hypertriglyceridaemia, detected with High Resolution Melting analysis

ConclusionsOur HRM assays detected the presence of functional gene variants that were confirmed with Sanger and NGS sequencing. The presence of multiple functional variant alleles was associated with differences in the clinical profile. Therefore, these assays represent a reliable, cost-effective tool that can be used to complement the NGS approach for gene scanning.Graphical abstract
Source: Clinica Chimica Acta - Category: Laboratory Medicine Source Type: research