Familial Hypercholesterolaemia
A genetic test that looks for variants in five genes associated with familial hypercholesterolaemia (FH), an inherited condition that can cause persistently high cholesterol and increase cardiovascular risk.
What does it check?
- LDLR (LDL Receptor) variants
- APOB (Apolipoprotein B) variants
- PCSK9 variants
- LDLRAP1 variants
- APOE genotype
Who may benefit?
People with severely elevated LDL cholesterol levels (e.g. >4.9 mmol/L in adults), a strong family history of early heart disease or heart attacks (under age 55-60), or physical signs such as tendon xanthomas.
Familial Hypercholesterolaemia
What is it?
A genetic test that looks for variants in five genes associated with familial hypercholesterolaemia (FH), an inherited condition that can cause persistently high cholesterol and increase cardiovascular risk.
Who may benefit?
People with severely elevated LDL cholesterol levels (e.g. >4.9 mmol/L in adults), a strong family history of early heart disease or heart attacks (under age 55-60), or physical signs such as tendon xanthomas.
Important information
A genetic diagnosis helps refine cardiovascular risk estimation and guides early, aggressive lipid-lowering therapy and family cascade testing.