Why get tested?
The genetic test is suggested for:
- All the individuals with history of venous thromboembolism or arterial thrombosis or with family history
- Hypertensive patients, patients with high cholesterol level or with heart diseases
- Women who wish to start on oral hormonal contraception
- Women with history of thrombosis in pregnancy of with history of multiple early miscarriages (first trimester)
- Women who wish to start estrogen-progestogen replacement therapy
What the test detects
Genetic test allows to identify if an individual is a carrier or not for one or more of the mutations associated with hereditary thrombophilia and this can allow to start a preventive antithrombotic treatment, it also permits early identification of other family members at risk.
The test allows to investigate some variants associated with alterations at the level of some coagulation factors.
The investigated factors can be:
- Factor V Leiden, G1691A / R506Q
- Factor V (3 variants) R2 (H1299R)
- Prothrombin / Factor II (G20210A)
- MTHFR (C677T e A1298C)
- PAI-1 / SERPINE1 4G / 5G
- FGB (Fibrinogen Beta Chain)
- HPA1b (Human platelet antigen 1) / Platelet GPIIIa receptor / (ITGB3)
- ACE (Angiotensin converting enzyme)
- AGT Angiotensin / Angiotensinogen
- AGTR1 (Angiotensin II type 1 receptor)
- CBS (Cystathionine beta-synthase)
- Factor XIII, V34L
Single factor thrombophilia: to be chosen from the above mentioned factors
Thrombophilic panel 6 variants: MTHFR (C677T and A1298C), Factor V (3 variants) R2 (H1299R) and Prothrombin / Factor II (G20210A)
Thrombophilic panel 13 variants *: all the investigated factors
How testing works
The genetic test consists in a blood sample, in the extraction of genomic DNA and in the analysis of the aforementioned variants using the CE-IVD Devyser Thrombophilia kit based on the multiplex PCR technique and separation of the fragments by capillary electrophoresis on an automatic sequencer.
Results in 15 working days.
Sensitivity and specificity
Sensitivity, specificity analytical accuracy > 99%.