Cardiovascular diseases / Hematology

Thrombophilia is the propensity to develop thrombosis, a multifactor disease triggered by a combination of different polymorphisms of genes controlling the coagulation system.
These hereditary defects increased the risk of deep venous and arterial thrombosis. The interaction with environmental factors (e.g. oral contraceptives and smoking) causes the disease. The main gene mutations reported are Prothrombin G20210A (Factor II), Factor V Leiden belonging to the coagulation pathway and the other linked to homocysteine metabolism as MTHFR.

Hereby a small overview of the genes/ mutations related with coagulation disorders which we can detect with our current product portfolio:

• Factor V: Factor V R506Q (Factor V Leiden), Factor V H1299R (HR2 allele), Factor V Y1702C, Factor V R306T (Cambridge)
• Factor II (Prothrombin): Factor II G20210A
• MTHFR (5,10-Methylentetrahydrofolate reductase): MTHFR C677T polymorphism, MTHFR A1289C
• Factor XIII: Factor XIII V34L
• PAI-1: PAI-1 (polymorphism 4/5G)
• Haemochromatosis C282Y, H63D, S65C
• MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase) A66G
• MTR A2756G
• DNMT3B (DNA methyltransferase) C-149T

These products are available in real-time PCR detection as well as in SSOP format.
If the gene / mutation you are looking for is not mentioned in the list, please contact us.