Thrombophilia is defined as the willingness of blood to clot easily in a situation of imbalances between fibrinolysis and coagulation. It is classified as inherited and acquired thrombophilia. Several studied revealed that the inherited thrombophilia is strongly associated with single nucleotide polymorphisms (SNP) or deletions on certain genes, such as FV Leiden, MTHFR1, MTHFR2, Serpine-1, and Factor II. The current genotyping techniques to identify these mutations are based on PCR and sequencing, which are time consuming and expensive methods. Therefore, a cost-effective, time- saving, and accurate technique is needed to screen symptomatic and asymptomatic suspicious people. This thesis aims to develop an SNP detection panel based on Kompetitive Allele Specific Primer-polymerase chain reaction (KASP-PCR) technique. Results revealed that 86.5% of susceptible patients (n = 111) contain at least one mutation. The results were validated through a novel colorimetric loop-amplified isothermal amplification (LAMP) and sanger sequencing techniques by selecting random samples. Rather than expensive and time-consuming approaches, the current assay enables the cost-effective advantage of the KASP-PCR, which reduces the diagnostic cost with a fast and convenient way. After clinical validation and approval, it can be used in hospitals, research centers, and diagnostic laboratories to determine the genetic
susceptibility of individuals to thrombosis and also for research purposes.
