CVD StripAssay® Kits
nacgenX™ Diagnostics provides series of eight (8) different StripAssay® Kits designed to detect various combinations of genetic risk factors for cardiovascular disease (CVD). The assays are based upon polymerase chain reaction (PCR) and reverse hybridization. (See table below for details on the various kit options)
- Kits are based on reverse-hybridization of biotinylated PCR products.
- Minimal equipment required (thermal cycler, shaking water bath).
- Technology combines probes for mutations and controls in a parallel array of allele-specific oligonucleotides.
- Functions using immobilized oligos on a teststrip.
- Strips show mutations by enzymatic color reaction visible to the naked eye.
- Proprietary software package (Evaluator™) that aids in data interpretation, storage, and archiving.
CVD StripAssay® Kit options detect variants in the following genes:
- FV Leiden (G1691A; R506Q): represents one of the most important genetic risk factors for inherited thrombophilia; leads to activated protein C resistance; occurs in 20-50% of patients with VTE.
- FV R2 haplotype (H1299R): mild risk factor for thrombosis; increases CVD risk for carriers of FV Leiden.
- Prothrombin (PTH; Factor II) G20210A: carriers have about 3-fold elevated risk for cerebral and deep vein thrombosis; risk significantly increases in combination with FV Leiden; the A allele is associated with increased prothrombin levels.
- 5,10-Methylenetetrahydrofolate Reductase (MTHFR): MTHFR C677T: homozygosity predisposes to arterial and venous thrombosis in the presence of additional risk factors; the thermolabile variant (T allele) is associated with reduced enzyme activity and elevated plasma homocysteine levels in conjunction with folate deficiency.
- MTHFR A1298C: compound heterozygosity for C677T and A1298C is considered as CVD risk factor; the C allele is also associated with reduced MTHFR enzyme activity.
- Factor XIII (FXIII) V34L: the L variant offers a protective effect against VTE.
- Plasminogen Activator Inhibitor 1 (PAI-1, Serpin E1) 4G/5G: is considered to be a mild risk factor for VTE and MI; the 4G allele is associated with higher PAI-1 transcription rates.
- Endothelial Protein C Receptor (EPCR): EPCR 4600 A>G (A3 haplotype): carriers of A3 are predisposed to VTE and fetal loss due to higher soluble EPCR plasma levels.
- EPCR 4678 G>C (A1 haplotype): homozygous A1 exerts a protective effect in carriers of FV Leiden.
- Apolipoprotein B (Apo B) R3500Q: severe hypercholesterolemia and elevated risk for atherosclerosis; is a dominant but rare mutation.
- Apolipoprotein E (Apo E) E2/E3/E4: the E4 allele is associated with increased susceptibility to early-onset MI, particularly in smokers; important predictors of the plasma lipid profile with E2 showing lowest and E4 showing highest LDL and total cholesterol levels.
- Beta-Fibrinogen (FGB) -455 G>A: increases the risk for premature MI and ischemic stroke; confers elevated betafibrinogen plasma levels.
- Human Platelet Antigen 1 (HPA1; Gp IIIa; integrin beta 3) 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): represents a risk factor for MI in elder patients and in smokers; the D allele is associated with elevated ACE activity and plasma levels.
- 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 LTA 252 A>G; both variants act strongly proinflammatory and are associated with coronary artery disease.