Cardiology
Whole exome sequencing (WES) with in silico gene panel analysis
Clinical Report (Download a sample report here)
~3-6 weeks*
For detailed information about the sample requirements, please consult our clinical sample requirements page.
Dyslipidaemia refers to an abnormal level of lipids (fats) in the blood, including cholesterol and triglycerides. It is a key risk factor for cardiovascular diseases (CVD), such as coronary artery disease (CAD), stroke, and peripheral artery disease (PAD).
Familial hypercholesterolemia is characterized by significantly elevated low-density lipoprotein cholesterol (LDL-C) that leads to atherosclerotic plaque deposition in the coronary arteries and proximal aorta at an early age and increases the risk of premature cardiovascular events such as angina and myocardial infarction.
Individuals with a more severe phenotype, often as a result of biallelic variants, can present with very significant elevations in LDL-C (>500 mg/dL), early-onset coronary artery disease (CAD; presenting as early as childhood in some), and calcific aortic valve disease.
Familial Hypercholesterolaemia is attributed to pathogenic variants in LDLR gene in around 50% of the cases and APOB gene in around 10% of the cases.
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