What is it?
A DNA test that consists of two components for disease diagnosis and gene-based intervention:
- A population-specific familial hypercholesterolaemia (FH) test including 8 gene defects in the LDL receptor gene.
- A globally applicable multi-gene cardiovascular disease (CVD) test including multiple mutations in genes involved in lipid metabolism, folate metabolism, blood clotting and iron overload.
The FH gene test is usually performed in patients with high cholesterol levels and a family history of early-onset coronary heart disease. Confirmation or exclusion of FH irrespective of whether the diagnosis of this lipid disorder is made on the clinical or DNA level, forms the basis of the Cardiovascular Genescreen. Genetic testing after clinical diagnosis of FH serves to (a) confirm the diagnosis and (b) if confirmed, support the need to cascade the testing in other family members.
The CVD multi-gene test is applicable in any person at risk of CVD and related disorders, including venous thrombosis that may also be related to pregnancy complications, vascular dementia, and inherited iron overload (haemochromatosis). The results of the genetic test and the lipid profile are combined with clinical indicators and lifestyle factors to identify a combination of risk factors that may lead to disease development or progression, if left untreated.
“Guard your heart
for it is the wellspring of life.”