This area of genetic testing includes testing for hereditary predispositions to blood clotting disorders, which include thrombosis, myocardial infarction, stroke, atherosclerosis, high blood pressure and other genetic cardiovascular diseases.
The causes of cardiovascular diseases can be divided into two main groups. The first are uncontrollable risk factors, which include genetic disposition, age and gender. The second group consists of external risk factors, in other words the lifestyle, i.e. inappropriate diet, low physical activity, long-term stress, smoking, alcohol and other harmful substances.
Knowledge of innate predispositions to cardiovascular disease and increased blood clotting, revealed by a genetic analysis, can help prevent health complications and enable appropriate preventive measures to be taken or adequate treatment to be implemented in a timely manner. The test is particularly suitable for middle-aged people, when the risk of cardiovascular disease naturally increases, but it is equally useful before elective surgery and for women who want to minimise the risk of pregnancy complications.
The TromboGen® 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 info1 600 Kč
The CardioGen® test can detect the risk of cardiovascular disease before the first clinical symptoms appear. Cardiovascular disease, or heart and blood vessel disease, is one of the so-called genetically determined diseases of affluence, the likelihood of which increases with age. Therefore, prevention plays a crucial role here.
You will receive the result within 10 working days.
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More info3 500 Kč
Genetic testing, which can reveal a predisposition to blood clots, detects mutations in the F5 gene, which encodes factor V, a key factor in the process of coagulation and the initiation of the Leiden mutation.
People with the Leiden mutation, approximately 6% of the population, have a significantly higher risk of developing deep vein thrombosis, thromboembolic disease, acute stroke and myocardial infarction, often at a younger age. Approximately 40% of patients with venous thrombosis are found to have this mutation. In women, the Leiden mutation poses an increased risk of pregnancy complications, especially spontaneous abortion, premature placental abruption, which can lead to premature birth, and placental dysfunction (infarction), causing intrauterine growth restriction (IUGR). The analysis is done from a sample of blood taken or a swab from the oral cavity.
Gene, specification: gene F5, lethal mutation, c.1691G>A
You will receive the result within 10 working days.
detailed informationGenetic testing that can reveal predispositions to certain cardiovascular diseases. Mutations in the ACE gene are associated with a higher risk of high blood pressure, or hypertension. If left untreated, hypertension can lead to serious cardiovascular disease, especially myocardial infarction or stroke. The analysis is carried out on a sample of blood or a swab from the oral cavity.
Gene, specification: gene ACE (insertion/deletion 287 kb)
You will receive the result within 10 working days.
detailed informationA genetic test that may reveal the predisposition to increased blood clotting and related diseases caused by prothrombin mutations in the F2 gene. People with this mutation, approximately 3% of the population, are at increased risk of deep vein thrombosis and thromboembolic disease, acute stroke and myocardial infarction.
Women are at increased risk of pregnancy complications, especially spontaneous abortion, premature placental abruption and intrauterine growth restriction (IUGR). This is a hereditary disease with a 50% risk of transmission to offspring. The analysis is performed from a sample of blood or a swab taken from the oral cavity.
Gene, specification: gene F2, prothrombin, c.20210G>A
You will receive the result within 10 working days.
detailed informationA genetic test that can reveal a predisposition to increased blood clotting and a concomitant decreased ability to dissolve blood clots, leading to venous thrombosis and related diseases. For people with the Leiden mutation, the mutation in the F5 gene, variant R2, is a risk factor for cardiovascular disease. The analysis is carried out on a sample of blood or a swab from the oral cavity.
Gen, specification: gen F5, variant R2 (p.H1299R)
You will receive the result within 10 working days.
detailed informationA genetic test that can reveal the cause of recurrent spontaneous abortions and other health complications associated with blood clots. 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 that could reduce the quality of fetal nutrition and/or lead to complications.
Insufficient production of annexin5 protein increases the risk of blood clots, especially in the placenta, which can lead to spontaneous abortion, pre-eclampsia, the development of low birth weight fetuses, as well as thrombosis or failure of IVF fertility treatment. The analysis is performed from a sample of blood taken or a swab from the oral cavity.
Gene, specification: ANXA5 gene
You will receive the result within 10 working days.
detailed informationA genetic test that can reveal the predispositions for the disease or the cause of your problems. Factor XIII is involved in wound healing and plays an important role in inflammatory processes, accelerating the process of fibrinolysis (dissolution of blood clots).
In carriers (especially in the Caucasian population), it is associated with a reduced risk of developing venous thrombosis and pulmonary embolism and cardiovascular disease, especially myocardial infarction. In contrast, there is an increased risk of bleeding and complications during surgery, and in women it is ranked among the risk factors for recurrent spontaneous abortion. The analysis is performed from a sample of blood taken or a swab from the oral cavity.
Gene, specification: F13A1 gene (p.V34L)
You will receive the result within 10 working days.
detailed informationA genetic test that can reveal the predispositions for the disease or the cause of your problems. PAI-1 is an important regulator of haemostasis (the arrest of bleeding). The SERPINE1 gene is involved in the conversion of plasminogen to plasmin, which influences various physiological processes such as fibrinolysis (dissolution of blood clots) and plays an important role in inflammation and tissue healing.
The SERPINE1 (PAI-1) gene is associated with higher levels of PAI-1, which is associated with a higher risk of developing cardiovascular disease, especially stroke. Testing is indicated only by the treating physician or recommended by genetic consultation. The analysis is carried out on a sample of blood or a swab from the oral cavity.
Gene, specification: SERPINE1 (PAI-1) gene (allele 4G/5G)
You will receive the result within 10 working days.
detailed informationA genetic test that can reveal the predispositions for the disease or the cause of your problems. The MTHFR gene encodes an enzyme that is important for the metabolic process of converting folate and folic acid (collectively known as vitamin B9) into an active form that our bodies can use.
If this process is disturbed due to gene mutations, an excess of homocysteine accumulates in the blood and we speak of so-called hyperhomocysteinemia, which is a risk factor for atherosclerosis and cardiovascular disease, and in pregnant women, it increases the risk of fetal cleft defects, especially of the spine and CNS (neural tube defects - NTD). The analysis is performed from a blood sample or oral swab.
Gene specification: MTHFR gene, c.677C>T, c.1298A>C
You will receive the result within 10 working days.
detailed informationA genetic test that can reveal the predispositions for the disease or the cause of your problems. Lipoproteins are responsible for the transport of cholesterol and other lipids through the bloodstream to where they are to be used or processed.
Chylomicrons (ultra low-density lipoproteins - ULDL) are responsible for maintaining normal cholesterol levels and transfer excess cholesterol to the liver for further processing, which is essential for preventing cardiovascular disease. A polymorphic form of the ApoE-E4 protein is associated with a higher risk of cardiovascular disease, including myocardial infarction, Alzheimer's disease and impaired cognitive function, especially in smokers. The analysis is performed on a sample of blood or an oral swab.
Gene, specification: APOE gene (alleles E2, E3, E4)
You will receive the result within 10 working days.
detailed informationA genetic test that can reveal the predispositions for the disease or the cause of your problems. Beta-thalassemia is a group of inherited diseases that result from mutations in the HBBA gene caused by defects in hemoglobin formation. Mutations in this gene can result in anaemia and sometimes enlargement of the spleen. The analysis is carried out on a sample of blood or a swab from the oral cavity.
The standard screening tests for the 22 most common mutations, which account for more than 90% of all mutations with Mediterranean occurrence.
Gene, specification: HBB gene, β-globin gene (22 mutations)
The PLUS test involves the analysis of the entire HBB gene, thus allowing the capture of multiple mutations that may be present in other ethnic minorities.
Gene, specification: HBB gene (whole gene)
You will receive the result within 15 working days.
detailed informationA genetic test that can reveal the predispositions for the disease or the cause of your problems. Mutations in the glycoprotein IIIa gene lead to increased platelet clumping and are associated with a higher risk of early myocardial infarction and stroke, especially in smokers.
Gene, specification: gene ITGA2B, glycoprotein GPIIIa (p.L33P)
You will receive the result within 10 working days.
detailed informationA genetic test that can reveal the predispositions for the disease or the cause of your problems. Fibrinogen is responsible for blood clotting and its elevated levels are associated with a risk of cardiovascular and cerebrovascular disease. The analysis is carried out on a sample of blood or a swab from the oral cavity.
Gene, specification: gene FBG, β-fibrinogen, c.-455G>A
You will receive the result within 10 working days.
detailed informationA genetic test that can reveal the predispositions for the disease or the cause of your problems. Familial Defective Apolipoprotein B-100 (FDB-100) is an autosomal dominant inherited disorder causing severe hypercholesterolaemia, or a genetic fat metabolism disease in which the body produces large amounts of cholesterol and cannot cope with it, leading to an increased risk of atherosclerosis.
The disease is caused by congenital mutations in the gene for apolipoprotein B100, the most common of which is the tested mutation p.R3500Q. The analysis is performed on a sample of blood or an oral swab.
Gene specification: APOB-100 gene, p.R3500Q
You will receive the result within 10 working days.
detailed informationFamilial 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.
Untreated individuals can have a heart attack in the 3rd or 4th decade of life, in up to one-third of cases with a fatal outcome. The clinical phenotype is significantly more severe in homozygotes than in heterozygotes, because in homozygotes, due to both alleles being affected, LDL-receptors are not synthesised at all or are completely non-functional, or their function is significantly reduced.
The term autosomal dominant hypercholesterolemia (ADH) is increasingly used in the original meaning of familial hypercholesterolemia, which now includes:
classic FH is caused by mutations in the LDLR gene
FDB with a defective gene for APOB
FH3 (or ADH3) with mutations in the PCSK9 gene
LDLRAP1 and STAP1
Gene, specification: LDLR, APOB, PCSK9, LDLRAP1 and STAP1
Method: massively parallel sequencing, MLPA
Indicating specialities: internal medicine - internal medicine, medical genetics, paediatrics
You will receive the result within 3 months
detailed information
After ordering the test, you will receive an email with detailed information. A DNA sample is most often obtained through an oral swab or blood sample. You can perform the oral swab yourself in the comfort of your own home using a collection kit which will be sent to you by mail together with instructions and other documents. You can have your blood drawn at your local physician's office or at our outpatient clinic. The result of the analysis will be sent to you by e-mail or by post as agreed. In the case of a positive result, we recommend an appointment for a genetic consultation.
