Why get tested?

Cardiovascular risk factors are specific conditions that are statistically related to cardiovascular disease and which are therefore believed to contribute to its pathogenesis.
The identification of patients with medium and high cardiovascular risk allows to take preventive actions from a young age, to arrange close checks and personalized therapies.
The sequence variations in the identified genes can predispose to an altered activity of the blood circulation and a consequent limited functional capacity of the heart.

What the test detects

The tests allow to identify, in the investigated genes, small sequence variants such as: single nucleotide changes, insertions and deletions of a few base pairs.

How testing works

The genetic test consists in performing a blood sample, in the extraction of genomic DNA and in the analysis of the entire coding sequence and related exon / intron junctions of different genes, in relation to the specific clinical phenotype. The analysis is conducted with NGS technology.

Which pathologies are detected

It is a relatively common genetic disease that affects cholesterol or lipid metabolism. In the disease, the function of the LDL receptors is altered, so the cells, especially those of the liver, are unable to absorb cholesterol or do so to a limited extent. An excessive concentration of LDL cholesterol remains in the blood and is deposited in various parts of the body, including the vascular walls. The longer the LDL cholesterol level remains, the greater the risk of atherosclerosis and therefore of heart attack, stroke or peripheral arterial disease.
Tested genes: APOB, LDLR and PCSK9
Atherosclerosis or atherosis is a chronic and progressive vascular disease that typically occurs in adulthood or advanced age, clinically causing cardiovascular pathologies: coronary artery disease, aneurysms, cerebrovascular accidents or peripheral vascular disorders. The typical lesions of atherosclerosis are atheroma or atherosclerotic plaque, that is, a thickening of the intimate layer mainly due to the accumulation of lipid material and the proliferation of connective tissue, which forms a fibrous (scar) hood above the lipid core.
Tested gene: ANKRD1

Reporting time

Results in 45 working days.

Tests available

Sensitivity, specificity and analytical accuracy > 99%.

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