SCREENING FOR GENETIC THROMBOPHILIAS
The genetic thrombophilia screening offered by this Unit includes testing for the following genetic polymorphisms: Factor V Leiden; Prothrombin 20210G>A, Methylenetetrahydrofolate reductase 677C>T.
Those who could benefit* from thrombophilia screening are:
PATIENTS WITH VENOUS THROMBOEMBOLISM
– Patients with a first episode of venous thromboembolism at age <50 years
– Patients with a first episode of venous thromboembolism at >50 years with a positive family history for thrombotic phenomena
– Patients presenting with recurrent episodes at any age without the presence of any other predisposing condition.
PATIENTS WITH ARTERIAL THROMBOSIS
– Young patients (<50 years of age) who develop acute arterial thrombosis in the absence of other traditional risk factors
– Myocardial infarction in female smokers under age 40
– Female patients receiving hormonal replacement therapy
– Patients with early saphenous vein graft failure
ASYMPTOMATIC WOMEN
– Asymptomatic women with a positive family history for venous thromboembolism before use of oral contraceptives and hormone replacement therapy
– Women with recurrent pregnancy loss or unexplained intrauterine fetal growth retardation or stillbirth
OTHER ASYMPTOMATIC SUBJECTS
– Asymptomatic relatives of patients with known inherited thrombophilia
HOW TO SEND SAMPLES: Samples should be sent to the Human Genetics Unit in sterile EDTA tubes. Samples can be sent at room temperature. Samples will be accepted between 9 a.m. and 3 p.m. on any working day. Alternatively patients can be referred to the Unit on Wednesday mornings between 9 a.m. and 12. noon.
Reports of samples received up to Wednesday on any week are usually issued on Monday of the next week. A detailed interpretation of the test and the test result is provided with the report.
COST OF TESTING: Rs. 2,500/-
*Fedrici, et al., Int J Cardiol. 2005 Aug 13; [Epub ahead of print]