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Categoría: Thrombophilia.
Días hábiles de entrega: 10

3 ml venous Blood and Bone Marrow obtained in purple lid tube with EDTA.

Store and ship samples at temperatures between approximately 4-8 ° C; refrigerant gels or ice pack ice can be used for shipping.

DNA extraction from the sample using commercial kits.

The amplified products are then digested with different primers, and the amplified products are digested with the primers of the 4 mutations studied: Factor II-Prothrombin (G20210A), Mutation Factor V (Leiden), Methyl Atherm Hydrofolate MTHFR A1298C and Mententetrahydrofolate Reductase (MTHFR) C677T. restriction and their visualization is performed on agarose gel by ethidium bromide staining.

10 working days.

Normal homozygote: the individual has both normal alleles.

Mutated homozygote: the individual presents the two mutated alleles.

Mutated homozygote: the individual has one normal allele and the other mutated.

Each mutation is reported separately.

Each test is performed with reagents validated for in vitro molecular diagnostics (primers and enzymes) and with commercial positive and negative controls; however, a negative result does not exclude the possibility of a mutation below the sensitivity limit of the test, or the possible presence of inhibitors of the PCR reaction.

The G20210A allele variant of prothrombin or factor II, is a mutation in the prothrombin gene associated with an increase in plasma prothrombin concentration, the gene of the same code for the inactive precursor of thrombin. This mutation has been found in 1% -2% of healthy individuals, 6.2% of patients with a first episode of deep vein thrombosis and 18% of patients with unexplained family thrombophilia. The G20210A Factor II mutation has also been found to be associated with an increased risk of myocardial infarction in young women.

Factor V Leiden is the genetic risk factor most frequently encountered in venous thrombosis, with a 20-40% incidence. If the mutation is present, the incidence of thrombosis increases 7-fold in heterozygotes and 80-fold in homozygotes compared to the incidence in people without the mutation. Factor V is involved in one of the coagulation activation and deactivation reactions, it is specifically degraded by activated protein C. Factor V mutation prevents the recognition of this factor by PCA and therefore its degradation, conferring greater blood coagulability to the carriers, highly related to the risk of thrombosis.

Methylentetrahydrofolate Reductase (MTHFR) is an enzyme that converts folate to methylenetetrahydrofolate, a necessary cofactor for the degradation of homocysteine. There are two mutations C677T and mutation A1298C in the same gene which decrease the enzymatic activity of the MTHFR predisposing both thrombus formation. Mutations in the MTHFR gene appear to be associated with a moderate elevation in the risk of Pre-eclampsia, Abruptio Placentae, and repeat abortions; the same mutations have been associated with neonates with defects in the neural tube, with very high homocysteine values being found in 20% of their mothers. The existence of a MTHFR C667T mutation in homozygous individuals increases the risk of coronary artery disease (17%), arterial disease (19%) and venous thromboembolism (11%). The detection of the C677T mutation allows to define particular aetiologies in cases of coronary diseases and locates families with high risk of thrombosis. This allows the establishment of preventive treatments and behaviors.

Beauchamp NJ, Daly ME, Hampton KK, Cooper PC, Preston FE, Peake IR. High prevalence of a mutation in the factor V gene within the U.K. population: relationship to activated protein C resistance and familial thrombosis. Br J Haematol. 1994 Sep; 88(1):219-22.

Weisberg I, Tran P, Christensen B, Sibani S, Rozen R. A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity (1998) Mol Genet Metab. Jul;64(3):169-72.

Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, Boers GJ, den Heijer M, Kluijtmans LA, van den Heuvel LP, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. 1995 Nat Genet. May; 10(1):111-3.


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