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Hereditary Thrombophilia due to congenital Antithrombin 3 deficiency
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Description
The protein encoded by SERPINC1 gene is a plasma protease inhibitor and a member of the serpin superfamily. This protein inhibits thrombin as well as other activated serine proteases of the coagulation system, and it regulates the blood coagulation cascade. The protein includes two functional domains: the heparin binding-domain at the N-terminus of the mature protein, and the reactive site domain at the C-terminus. The inhibitory activity is enhanced by the presence of heparin. Mutations in this gene are known to cause antithrombin-III deficiency (Lane et al., 1994).
External Information
Click here for more information about the Hereditary Thrombophilia due to congenital Antithrombin 3 deficiency genetic test.Additional information
Samples | EDTA |
---|---|
Method of testing | NGS |
Turnaround Time (TAT) | 30-40 days |
Number of Genes | 1 |
Genes / Chromosomes / SNPs | SERPINC1 |
Related diseases | |Antithrombin III deficiency |
External Information | Click here for more information about the Hereditary Thrombophilia due to congenital Antithrombin 3 deficiency genetic test. |