Hematalogy

Hereditary Hemochromatosis


Introduction: Hereditary hemochromatosis (HH) is characterized by an increase in iron absorption in the organs and systems of the body causing damage to them especially to the liver. The disease is caused by mutations in the HFE gene, located on the short arm of chromosome 6. The HFE codes for a protein (belonging to the family of molecules of the major histocompatibility system HLA-A) that participates in the regulation of absorption of iron and is expressed, at high levels, in organs such as the liver and small intestine. About the exam: The study consists of the C282Y and H63D mutations found in the HFE gene. The point mutation C282Y (substitution of guanine by adenine that gives rise to the change of the amino acid cysteine ​​by tyrosine) and H63D (substitution of cytosine by guanine giving rise to the exchange of histidine by aspartic acid). The inheritance of the disease is autosomal recessive for the C282Y mutation. Patients heterozygous for this mutation are carriers of the disease but do not suffer it. For the H63D mutation the homozygous genotype does not cause hemochromatosis; it is necessary that both coexist (C282Y / H63D) so that the problem develops. Genes or alleles analized: HCT Technique used: Sanger Sample type: Whole blood (EDTA tube), 2.5 mL // Cheek swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 10 business days In case you have any questions, get in touch.




Methyl Tetra Hydro Folate Reductase mutation (MTHFR)


Introduction: The determination of mutations in the MTHFR gene is associated with high concentrations of homocysteine ​​in the blood, which can lead to disorders in coagulation. About the exam: The study consists of determining the MTHFR mutation (C677T and A1298C). Genes or alleles analized: MTHFR Technique used: Real Time Sample type: Whole blood (EDTA tube), 2.5 mL // Mouth swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 7 business days In case you have any questions, get in touch.




20210 Factor II mutation - Prothrombin


Introduction: Hereditary thrombophilia is a genetic disease that results from two or more mutations in genes involved in the hemostatic system, with variability in the penetrance of the thrombotic phenotype. Among the mutated genes associated with the increased risk of venous thrombosis is the G20210A mutation of the prothrombin gene. About the exam: The study consists of determining the Factor II mutation (G2021A). Genes or alleles analized: Factor II Technique used: Real Time Sample type: Whole blood (EDTA tube), 2.5 mL // Mouth swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 7 business days In case you have any questions, get in touch.




Factor V Leiden mutation


Introduction: Disorders in Factor V Leiden can cause thrombophilia problems. Factor V of coagulation is a protein present in the blood involved in blood clotting. People who have problems with this protein will eventually manifest coagulation problems. About the exam: The study consists of determining the Factor V Leiden mutation (R506Q). Genes or alleles analized: Factor V Technique used: Real Time Sample type: Whole blood (EDTA tube), 2.5 mL // Mouth swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 7 business days In case you have any questions, get in touch.





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