Molecular genetic test

What is a molecular genetic test?

It is a method of analyzing the genome in body cells. This heritable material is represented by a specific group of genes. The test identifies the mutations of these genes. The detected changes help to determine the risk of the occurrence of multifactorial disorders, such as diabetes, hypertension, obesity, ischemic heart disease, cancer, etc. These disorders have a so-called genetic predisposition, which occurs under the effect of external factors. The frequency of these diseases increases with advancing age.

Molecular genetic testing helps to solve the following tasks:

• determine the individual risk of the occurrence of multifactorial disorders;
• change the external factors (diet, lifestyle, medication intake) corresponding to the detected genetic risks;
• develop an individual protocol of screening for early detection and therapy of multifactorial disorders and their complications.

Molecular genetic test at Kivach Clinic

There are several versions of this test.

Full analysis

The full analysis covers several groups of genes and helps to determine the risk of the occurrence of the following multifactorial diseases:

• hypertension;
• venous thrombosis;
• hyperhomocysteinemia;
• diabetes;
• obesity;
• atherosclerosis;
• Alzheimer's disease;
• osteoporosis;
• cancer;
• some forms of infertility;
• bronchial asthma and chronic obstructive pulmonary disease.

Test options

If necessary, only one type of test can be done. There are several options for this type of test. It is ordered by an attending physician or a medical specialist.

Defining the risk

The risk is defined in any type of test:

• Average – the risk is the same as the average risk in the population.
• Low – the risk is lower than average.
• Minimal – the risk is slightly higher than average, but it does not require any treatment.
• Slightly increased – the risk is higher than average and requires lifestyle changes should other risk factors be present.
• Increased – the risk is increased and requires lifestyle changes and a possible drug prescription.
• High – lifestyle changes and medication are necessary.

Patient’s genetic passport

A genetic passport is drafted based on the full analysis. It is a multi-page document that contains the summary table of the test results, as well as the following information:

• test methods;
• what groups of genes were analyzed for mutations;
• which type of gene (out of the tested ones) was detected – normal or mutated;
• how the activity of each gene affects the development of a disease;
• short conclusion on the risk for each group of genes;
• recommendations aimed at lowering the risk of disease development linked to each group of analyzed genes.

Based on the test results (of the full test, as well as any shortened version), the specialists of the clinic provide extensive individual recommendations:

• on modifying the lifestyle;
• on nutrition;
• on physical exercises;
• on medication intake;
• on recommended medical and preventive procedures.

Test results (including the genetic passport) are valid throughout the whole life of a patient. There is no need to have another/additional test.

About the test

How is the test conducted?

This is a one-time procedure that does not require any preparation from a patient.

A medical worker draws a blood sample from a patient. This sample is sent to a laboratory outside the clinic.

The test analyzes the genes associated with particular tasks – depending on the type of the test. The full test includes the analysis of the following factors:

• Blood pressure genes. The test identifies the risk of hypertension.
• Genes of the blood coagulation system. The test identifies whether a patient has thrombophilia – a state when there is a presupposition for early development and recurrence of thrombosis, thromboembolism, ischemia, and the infarction of internal organs.
• Genes of homocysteine metabolism. The test identifies possible defects of homocysteine metabolism. Homocysteine is a sulfur-containing amino acid. Elevated homocysteine levels damage the blood vessel wall and form blood clots. The test helps to identify the degree of risk of the development of venous thromboembolic complications, cardiovascular diseases (atherosclerosis and its complications), pregnancy complications, developmental fetal neural tube defects.
• HLA system genes. The test of such genes helps to identify the risk of developing type 1 diabetes.
• Genes that are involved in fats and carbohydrates metabolism. Genes of lipid and carbohydrate metabolism are tested. The mutation of these genes creates a predisposition to obesity, which cannot be treated by conventional dieting methods. These mutations also increase the risk of developing type 2 diabetes.
• Genes of lipid metabolism. The test helps to identify the predisposition to atherosclerosis and Alzheimer’s disease.
• Genes that control metabolism in bone tissue. The test identifies the coherence in the work of gene networks, which are responsible for osteogenesis, the processes of bone remodeling, and calcium and phosphate metabolism. The test identifies possible mutations that increase the risk of osteoporosis development.
• Detoxification genes. These genes encode enzymes that break down toxins. The mutations of these genes lower enzyme activity, which makes the body more susceptible to the negative influence of the environment. It increases the risk of cancer. The detection of gene changes helps to carry out preventive actions timely.
• Drug metabolism. Mutation of the detoxification genes directly affects drug metabolism. The test helps to adjust drug dosage and regimen to lower the toxic load.
• Genes associated with reproductive function. Several groups of genes are tested, which helps to define the risk of women’s and men’s infertility, as well as miscarriage.
• Genes associated with bronchial asthma. The test identifies mutations in several groups of genes, which increase the risk of bronchial asthma and obstructive pulmonary disease.
• Genes associated with HIV susceptibility. These genes encode chemokines – special proteins that are produced in tissues at the moment when the body starts to react to the pathogen or allergen. In normal conditions, chemokines block virus particles. If encoded incorrectly (if the corresponding gene is changed), chemokine can leave the pathogen “unnoticed”. The test can also identify the susceptibility to HIV infection.
• Predisposition to pathological addictions. Several genes are tested, in particular dopamine receptor gene and serotonin receptor gene. Dopamine and serotonin are usually called “pleasure” hormones. The test helps to identify the changes in these genes, which can be the reason for a pathological addiction.
• Sports genetics. A summary table with inherited physiological features affecting a person's success in sport. The test helps to identify the preferred type of exercise (strength training, cyclical training), health risks associated with physical exercise, as well as the level of stress resilience.
• Dermatogenetics. The test identifies a number of skin characteristics, e.g., the resilience against UV-rays (sunlight) and free radicals. It helps to choose the most effective and safest cosmetic products and cosmetic treatments.
• Nutrigenetics. The analysis of the several groups of genes identifies the risk of metabolic disorders. Based on this information it is possible to draft an individual diet. This program helps to lower the risk of developing serious diseases by getting the substances causing pathological reactions out of the body.

The test results arrive within four weeks. Patient's individual genetic passport is drafted based on its results and contains the following:

• a detailed explanation of the test (all tests mentioned above are included in the full genetic passport that is drafted based on the full genetic test);
• specialists’ conclusions regarding possible risks;
• recommendations aimed at lowering the existing risks.

The results are sent to the patient via email. The doctor provides a detailed consultation based on the present problems and the type of testing that was done. The doctor can prescribe certain medications (drugs), procedures, physical exercise, diet, etc.

During the consultation, the doctor will listen to a patient's wishes, conduct an examination, recommend genetic testing that corresponds to the needs of a particular patient, prescribe additional tests if necessary and propose the best possible treatment.

Contraindications

• There are no contraindications.

Question-answer

1. When can the result be evaluated?

2. The result can be evaluated after following the recommendations based on the test results. These recommendations are aimed at lowering the risk of developing multifactorial diseases – diabetes, hypertension, obesity, ischemic heart disease, cancer, bronchial asthma, various pathological addictions, etc.

3. What result should be expected?

4. The test identifies the risk of developing multifactorial diseases.

5. If the test safe?

6. The test is safe – only a blood sample is drawn.

7. Is the test painful?

8. There might be a short-term discomfort when the blood sample is drawn. It does not affect the overall condition of a patient.

9. How to prepare for the test?

10. The test does not require any preparation.

11. How long does the rehabilitation period last?

12. There is no rehabilitation period. The puncture of the skin will heal within several minutes.

13. Are complications possible?

14. Complications are ruled out.

15. What ensures that the test is successful?
16. • Qualified doctors with extensive practical experience.
    • The use of certified drugs and advanced equipment.
    • Compliance with the standards of medical care.