Familial Hypercholesterolemia Panel
The three genes most commonly implicated in familial hypercholesterolemia, an inherited cause of very high LDL cholesterol and early cardiovascular disease.
3 genes · 2 variants
low density lipoprotein receptor
LDLR is a human protein-coding gene.
apolipoprotein B
APOB is a human protein-coding gene.
proprotein convertase subtilisin/kexin type 9
PCSK9 is a human protein-coding gene.
LDLR · p.Trp87Gly
rs121908025 is a genetic variant located in the LDLR gene.
PCSK9 · p.Arg46Leu
rs11591147 is a genetic variant located in the PCSK9 gene.
Educational information only — not medical advice, a diagnosis, or a clinical recommendation. This panel is a curated grouping of public-record gene and variant pages for reference; it does not reflect your own genome or personal risk. Consult a qualified genetics professional or genetic counselor for interpretation relevant to you.