The assay covers the following 7 mutations
HPA 1 ( a / b)
ß- Fibrinogen -455 G>A
Apo B R3500Q
Apolipoprotein B (Apo B) R3500Q: dominant but rare genetic defect causing severe hypercholesterolemia and elevated risk for atherosclerosis. Apolipoprotein E (Apo E) E2/E3/E4: important predictors of the plasma lipid profile with E2 showing lowest and E4 showing highest LDL and total cholesterol levels; E4 allele is associated with increased susceptibility to early-onset MI, particularly in smokers. Beta-Fibrinogen (FGB) -455 G>A: confers elevated b-fibrinogen plasma levels and increases risk for premature MI and ischemic stroke. Human Platelet Antigen 1 (HPA1; Gp IIIa; integrin b3) L33P (1a/b): HPA1b is a risk factor for early-onset MI and stroke, particularly in smokers. Angiotensin-Converting Enzyme (ACE) 287 bp insertion/deletion (I/D): D allele is associated with the elevated ACE activity and plasma levels; represents a risk factor for MI in elder patients and in smokers. Endothelial Nitric Oxide Synthase (eNOS; NOS3): eNOS -786 T>C: the C allele causes a higher susceptibility to coronary heart disease. eNOS 894 G>T (Glu298Asp): the T allele confers an increased risk for premature MI. Lymphotoxin Alpha (LTA) 804 C>A (Thr26Asn): is in almost complete linkage with 252A>G; both variants act strongly proinflammatory and are associated with coronary artery disease.