Thrombophilia is a common genetic blood disorder affecting blood coagulation, thereby increasing the risks of Thrombosis and pulmonary embolism. Hereditary Thrombophilia can be inherited in an autosomal dominant manner i.e., one non-affected copy is enough to cause the disease. Such individuals are more likely to develop clots than healthy individuals. Heterozygous individuals have around 50% of normal plasma Antithrombin levels and are usually symptomatic. Homozygous deficiency is incompatible with life.
Thrombophilia mutation profiling is a cost effective and sensitive test which screens the most common 14 gene mutations responsible for Thrombophilia.
Parameters covered are - Factor V (G1691A) Leiden, Factor II Prothrombin (G20210A), MTHFR (C677T), MTHFR (A1298C), MTRR (A66G),MTR (A2756G),PAI SERPINE (-675 5G/4G), FGB (G-455A), AGT 1 (C521T), AGT 2 (C4072T), FVII (G1238A), FXIII (G103T), ITGA2 (C807T), ITGB3 (T176C)
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