Familial Hyperlolesterolemia is an inherited disorder of lipoprotein metabolism, characterized by high concentrations of LDL cholesterol.
This genetic diagnostic test analyzes the 7 genes most frequently associated with familial hypercholesterolemia and allows its treatment.
For which patients is it useful?
- Patients with high levels of LDLc cholesterol (suspicion of familial hypercholesterolemia).
- Family history of hypercholesterolemia (in children).
- Delivery time: 50 working days (from Monday to Friday)
- Knowing if hypercholesterolemia has a genetic cause, allows establishing a definitive diagnosis and identifying relatives with the same mutation.
- The early diagnosis of familial hypercholesterolemia allows the implementation of treatment measures appropriate to the patient's cardiovascular risk level, and thus prevent premature myocardial infarction.
- Preventive measures are easier to follow if implemented before adolescence.
What does it analyze?
- Variants in genes that have been associated with the different causes of familial hyperlolesterolemia (LDLR, PCSK9, APOB, APOE, STAP1 and LDLRAP1 genes) and the diagnosis of lysosomal acid lipase deficiency (LAL, LIPA gene).
- Genotyping of 2 variants related to Plasma Lp (a) increase.
- Genotyping of 3 variants of the pharmacogenetics of Statins (Sinvastatin).