This area of genetic testing includes testing for thrombophilic mutations and other mutations associated with bleeding disorders, risk of high blood pressure, heart attack, stroke and others. Thrombophilia is a tendency to increased blood clotting, which is influenced by congenital dispositions, but also by multifactorial external influences (e.g. movement, weight, age, smoking, injury, medication). People with higher blood clotting rates are more at risk of developing blood clots, which can lead to venous thrombosis. Part of the clot may break loose, travel through the venous system and close one of the pulmonary vessels after passing through the heart, causing a pulmonary embolism. Knowledge of the innate disposition to blood clotting can help not only in the reproductive period of life, but also in surgery, long-term immobilization or treatment of chronic diseases.
This genetic analysis can detect innate predispositions to increased blood clotting and allows you to take the necessary preventive measures in time. Thrombosis is a blood clot that can cause serious health complications, in extreme cases even death. It is caused by slowed blood flow and/or altered blood composition due to the joint effects of external risk factors and hereditary predispositions.
You will receive the result within 10 working days.
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More infoThe F5 gene encodes factor V, which is crucial in the blood clotting process. The Leiden mutation in the F5 gene increases blood clotting. The mutation prevalence in the European population is 3-7%, in the Czech population it is around 5%.
Delivery time: 10 working days
The F2 gene encodes factor II (prothrombin), which is activated to thrombin during the clotting process. Carriers of the prothrombin mutation in the F2 gene are at increased risk of deep vein thrombosis and thromboembolic disease, associated with a higher incidence of acute stroke and myocardial infarction at a younger age.
Delivery time: 10 working days
Factor XIII, or fibrin stabilizing factor, is an enzyme that ensures stabilization of fibrin cross-links during hemocoagulation. Factor XIII is involved in wound healing, phagocytosis, placental adhesion and cytoskeleton remodeling and plays a role in inflammatory processes. The c.103G>T variant of the F13A1 gene causes a substitution of the amino acid valine for leucine at position 34 of the peptide chain (p.V34L).
Delivery time: 10 working days
The SERPINE1 ( PAI-1, plasminogen activator inhibitor) gene inhibits the conversion of plasminogen to plasmin. Plasmin influences various physiological processes such as fibrinolysis, inflammation or tissue healing.
Delivery time: 10 working days
The MTHFR gene encodes the enzyme methylenetetrahydrofolate reductase, which is crucial for the folate cycle. It is needed for the metabolic conversion of the amino acid homocysteine to methionine, necessary for the formation of purines, i.e. the actual DNA, cell renewal and fetal development.
Delivery time: 10 working days
The F5 gene encodes factor V, which is crucial in the blood clotting process. Other factor V mutations include the H1299R mutation (R2 haplotype). This mutation is responsible for the reduction in factor V levels, where a drop to 20% of the normal value causes, among other things, resistance to activated protein C.
Delivery time: 10 working days
Hypertension arises as a dysregulation of blood pressure, which is determined primarily by minute cardiac output and total peripheral resistance. Peripheral resistance is determined by, among other things, the properties of the blood vessels, e.g. the thickness of the vessel wall and the degree of vasoconstriction.
Delivery time: 10 working days
α1-antitrypsin deficiency (AAT) is a congenital disorder that can cause liver or lung disease. The prevalence of the disorder is around 1 : 2500 in the European population. Lung damage often manifests itself between the ages of 20 and 50 as shortness of breath, wheezing and a higher risk of lung infections.
Delivery time: 10 working days
Hereditary haemochromatosis type HCC1 is an autosomal recessive (AR) disease that can lead to liver or other serious disorders. The incidence of the disease is around 1 : 300 in the Caucasian population.
Delivery time: 10 working days
The ANXA5 gene encodes the annexin5 protein which prevents blood clots. During pregnancy, a mixture of annexin5 produced by the fetus and mother deposits on the surface of the placental villi and prevents the formation of blood clots there that could reduce the quality of fetal nutrition and lead to complications in pregnancy.
Delivery time: 10 working days
Lipoproteins are spherical complexes composed of apoproteins and lipids (fats and cholesterols) that provide transport of lipid-like substances through the blood. Apoproteins then ensure the binding of lipoproteins to cell receptors and the transfer of substances into cells.
Delivery time: 10 working days
Apoproteins are essential for the transport of lipids (fats and cholesterols) in the blood in the form of lipoprotein complexes. Additionally, they ensure the binding of lipoproteins to cell receptors. ApoB-100 is found in VLDL, LDL and IDL lipoproteins and allows their binding to the LDL receptor.
Delivery time: 10 working days
Familial hypercholesterolemia (FH, OMIM 144010) is an autosomal dominant inheritance pattern and is the most common inborn error of metabolism with a frequency of 1:200-250 in most Caucasian populations. As a result of a genetic disorder of LDL-cholesterol metabolism, LDL-cholesterol accumulates in the circulation and in the tissues, leading to the premature development of atherosclerosis.
Delivery time : within 3 months
Haemochromatosis is most commonly caused by mutations in the HFE gene which is involved in iron homeostasis. More rarely, haemochromatosis is also caused by mutations in the TFR2 or FPN1 genes, the most common mutations of which are analysed in the Extended Haemochromatosis Panel.
Delivery time: 10 working days
Beta-thalassemias are a group of inherited disorders caused by mutations in the gene for β-globin (HBB) that cause defects in the formation of the β-chain of hemoglobin. There are a large number of β-globin mutations, and the geographical location has a significant effect on the distribution.
Delivery time: 15 working days
Beta-thalassemias are a group of inherited disorders caused by mutations in the gene for β-globin (HBB) that cause defects in the formation of the β-chain of hemoglobin.
Delivery time: 20 working days
Glycoprotein GPIIb/IIIa functions as a receptor for fibrinogen, thus playing a key role in the aggregation of platelets to each other and to surfaces. Changes in the antigenic properties of the molecule can also lead to bleeding disorders (post-transfusion purpura, neonatal thrombocytopenia).
Delivery time: 10 working days
Fibrinogen, or coagulation factor I, is a precursor of fibrin. Fibrin is directly responsible for binding platelets, so it is necessary for blood clotting. It is activated especially in vascular wall disorders.
Delivery time: 10 working days
Gilbert's syndrome is inherited in an autosomal recessive pattern and its frequency is high, with estimates of 5-15% in the Indo-European population. Gilbert's syndrome is characterized by a rise in the level of unconjugated bilirubin with normal levels of conjugated bilirubin and completely normal activity of other "liver tests", especially transaminases.
Delivery time: 10 working days