FAMILY DYSLIPEMIA: CLINICAL EXOME PANEL (Sec. & CNVs) – 114 genes

The Familial Dyslipidemia Panel analyzes 114 genes involved in inherited disorders of lipid metabolism, responsible for alterations in plasma levels of cholesterol, triglycerides, and lipoproteins. These conditions can manifest as hypercholesterolemia, hypertriglyceridemia, hypolipidemia, or mixed combinations, with an increased risk of premature cardiovascular disease, pancreatitis, or hepatosplenomegaly. The panel includes genes associated with major monogenic dyslipidemias, such as autosomal dominant familial hypercholesterolemia (LDLR, APOB, PCSK9, LDLRAP1), familial hypertriglyceridemia (LPL, APOA5, GPIHBP1, LMF1, APOC2), hypoalphalipoproteinemia (ABCA1, APOA1, LCAT), as well as other forms of dyslipidemia secondary to defects in hepatic metabolism, insulin, or lipoprotein biogenesis (MTTP, SAR1B, PPARG, GCKR, ANGPTL3). Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, this panel allows the identification of genetic variants that affect lipoprotein synthesis, transport, and clearance. Some of the genes included in this panel are: LDLR, APOB, PCSK9, LPL, APOA5, ABCA1, APOA1, LCAT, GPIHBP1, and ANGPTL3, among others. You can consult the complete list of genes by contacting Genotica.