The study assessed a panel of genetic variants, including both clinically validated thrombophilia markers (Factor V Leiden and Prothrombin G20210A) and additional polymorphisms frequently investigated in relation to pregnancy outcomes, such as MTHFR C677T, MTHFR A1298C, PAI-1 4G/4G, Factor XIII V34L, and EPCR variants. The gene discussed is MTHFR; the disease is Rare hereditary thrombophilia.