Familial hypercholesterolemia is an autosomal dominant disease characterized by impaired low-density lipoprotein metabolism.
The most common cause of familial hypercholesterolemia is a mutation in the LDLR gene.
It's Advent – Full panel Examines mutations in 231 genes, including the LDLR gene.
The panel determines whether a person is a carrier of the mutation in the gene in question.
Adventia – full panel (1 person)
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