Test Code: PNL108
Familial hypercholesterolaemia & other lipoprotein metabolism defects
Rare Diseases
Familial Hypercholesterolaemia (FH) and related lipoproteinaemias are inherited disorders that affect cholesterol and lipid metabolism. These conditions often lead to elevated levels of low-density lipoprotein cholesterol (LDL-C), increasing the risk of premature cardiovascular disease. Genetic testing helps identify individuals at risk, enabling early intervention and personalized treatment strategies.
Sample Type
3 ml peripheral blood in EDTA (purple/pink top) tube
Turnaround Time
3 weeks days
Courier Requirements
Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Pricing
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Genes Analyzed
9 genes
ABCG5
ABCG8
APOB
APOE
CYP27A1
LDLR
LDLRAP1
LIPA
PCSK9
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