Cardiovascular diseases (CVD) are lifethreatening conditions which affect up to 10% of the human popula-tion. Thrombotic complications, such as an acute myocardial infarction, ischemic stroke, pulmonary embolism, deep venous thrombosis are the major causes of morbidity and mortality in the world. A wide spectrum of CVD with inherited genetic susceptibilities is now known, and the advances made over the past 25 years in understanding the genetic basis of these disorders provide a rationale for ensuring competence in genetics for experts in the prevention of CVD. Genetic susceptibility may be caused by mutations and polymorphisms in a variety of genes mainly involved in blood coagulation, regulation of blood pressure, and metabolism of lipids, glucose, homocysteine or iron. Among the cardiovascular diseases markers have important role variations in the genes for blood coagulation factors V (FV), II (protrombin), XIII (FXIII), plasminogen activator inhibitor-1 (PAI-1), methylenetetrahydrofolate reductase (MTHFR), apolipoprotein B (Apo B), platelet glycoprotein IIIa (GPIIIa), ß-fibrinogen (FGB). Moreover, an increased tendency to develop thrombosis, called also thrombophilia, underlies the significant proportion of cases in the most common obstetric complications (recurrent pregnancy loss, fetal growth retardation, preeclampsia, abruptio placentae).
Sacace CVD Kits are performed by the detection of the genetic variants using competitive allele-specific amplification in Real Time PCR. The kits contain 2 allele-specific primers in one tube: the 1st primers detect the Normal Wild type genome and they are labeled with FAM (channel Green/Fam) while the 2nd primers detect the mutant genome and are labeled with Joe (channel Yellow/Joe). The presence of positive fluorescence signal in one channel testifies the homozygote condition of genome and the positive fluorescence signals in both channels corresponds to the presence of the mutation in heterozygous form. The absence of a detectable signal is indicative for an inefficient DNA extraction or a PCR inhibition.