Mutations in the BRCA1 and BRCA2 genes play a key role in the development of hereditary forms of the following diseases:

• breast cancer,
• ovarian cancer,
• prostate cancer, and pancreatic cancer.

BRCA-associated forms of cancer are characterized by an early age of disease manifestation and a more aggressive course than other forms.

Indications for the study:

• Poor family history;
• Breast cancer at a young age;
• Prostate cancer;
• Pancreatic cancer;
• Tumors of unknown primary site;
• Ovarian and fallopian tube cancer;
• High-grade serous and endometrioid carcinomas.

Material for research: blood.

Warfarin metabolism

The study of genetic polymorphisms affecting warfarin metabolism is necessary for the implementation of competent anticoagulant therapy and the prevention of side effects.

Indications for the study: taking warfarin.

Metabolism of clopidogrel

The efficacy and safety of clopidogrel may vary significantly depending on genetic factors affecting its metabolism.

Indications for the study: the need to prescribe clopidogrel.

Material for research: blood.

Helicobacter pylori

Even at the diagnostic stage, it is possible to assess whether treatment for Helicobacter infection will be rational and effective.

1. Determination of Helicobacter pylori (H. pylori) in feces by the PCR method is carried out:
   - to detect H. pylori,
   - to assess the effectiveness of therapy (no earlier than four weeks after completion of antibacterial therapy).
   

   The test is highly accurate—up to 95%. This test is the simplest diagnostic method. It is especially recommended for children, the elderly, and seriously ill patients.
   Who is recommended to take this test?
   - People with symptoms of gastrointestinal diseases. If there are complaints of stomach pain, heartburn, nausea, or frequent indigestion.ё
   - People with ineffective treatment for ulcers or gastritis. If symptoms persist even after taking antibiotics, bacterial resistance may be the cause.

2. Determination of H. pylori resistance to clarithromycin by PCR is recommended:
   - before prescribing any eradication therapy regimen containing clarithromycin.

Microbiome of the reproductive tract

Androflor®. The microbiome of the male reproductive tract
Androflor® is a comprehensive PCR-based test of the male urogenital microbiota. It allows for highly accurate quantitative and qualitative determination of the urogenital tract microbiota in men, helping to diagnose urogenital dysbiosis, infections, and potential causes of infertility.

Material for research: scraping from the urogenital tract, urine, prostate secretion, ejaculate

Femoflor®. Microbiome of the female reproductive system

Femoflor® is a comprehensive PCR-based test of the female urogenital microbiota. It allows for highly accurate quantitative and qualitative determination of the microbiota of the urogenital tract in women.

Material for research: scraping of epithelial cells from the vagina, urethra, cervical canal

PCR diagnostics of blood-borne infections (viral hepatitis B, viral hepatitis C)

PCR diagnostics of blood-borne infections (viral hepatitis B, viral hepatitis C)

Indications: confirmation of the presence of a current infection; antiviral therapy for chronic hepatitis C; monitoring the effectiveness of treatment; liver disease of unspecified etiology; acquired immunodeficiency; use of immunosuppressive therapy.

Material for research: blood.

Human papillomaviruses (HPV DNA screening)

Screening for human papillomavirus infection (HPV) is an HPV DNA test that helps detect the presence of the virus and identify which types (high- or low-risk) are present in the body. This screening is key to identifying infections that can cause cervical cancer and other types of cancer. The test is also important for refining treatment plans.

Material for research: scraping of epithelial cells from the urogenital tract.

Genetic testing can predict the risk of hypertension and related diseases, identify pathologies at early stages, and select the correct treatment.

Indications for genetic analysis:

• Arterial hypertension in at least two first- and second-degree relatives;
• Family history of early cardiovascular disease (myocardial infarction, ischemic stroke before age 50);
• Development of arterial hypertension before age 45;
• High blood pressure in the absence of causes of symptomatic hypertension (kidney disease, endocrine system disease, heart defects, or vascular malformations);
• Coronary heart disease (CHD);
• Placental dysfunction;
• Diabetes mellitus;
• Drug selection for hypertension;

Material for research: blood.

Thrombophilia is a condition that increases the risk of blood clots. This can be caused by both congenital (hereditary) and acquired factors. Molecular genetic testing allows one to assess the genetic risk of thrombophilia. Knowing one's genetic predisposition can help prevent the development of cardiovascular disorders through timely preventative measures.

When is the test scheduled?

• If there is a family history of thromboembolism.
• If there is a history of thrombosis.
• If women are using hormonal contraceptives or hormone replacement therapy:
  1) those with a history of thrombosis,
  2) first-degree relatives with a history of thrombosis or hereditary thrombophilia.
• With a complicated obstetric history (miscarriage, fetoplacental insufficiency, thrombosis during pregnancy and in the early postpartum period, etc.).
• When women with a history of thrombosis (or first-degree relatives with thrombosis) are planning a pregnancy.
• In high-risk conditions such as abdominal surgery, prolonged immobilization, constant static loads, and a sedentary lifestyle.
• With a family history of cardiovascular disease (cases of early heart attacks and strokes).
• When assessing the risk of thrombotic complications in patients with malignant neoplasms.

Material for research: blood.

HLA-B27 - основной маркер высокой предрасположенности к развитию заболеваний опорно-двигательного аппарата.

What is the study used for?

• For the differential diagnosis of joint syndrome.
• Prescribed when an autoimmune disease is suspected, especially in the presence of symptoms such as pain and inflammation in the joints, spine, or eyes.
• For screening, diagnosis, and prognosis of ankylosing spondylitis.
• Used to differentiate between diseases with similar symptoms, such as rheumatoid arthritis or gout.

Research material: blood.

Lactose is a milk sugar that makes up approximately 99% of the carbohydrates in all milks. The enzyme lactase breaks lactose down into glucose and galactose in the gastrointestinal tract, after which these monosaccharides are absorbed. If there is too much undigested lactose in the intestines (the activity of the lactase-splitting enzyme is reduced), the undigested lactose causes water to leak from the body into the intestinal cavity, resulting in loose stools (diarrhea), pain, rumbling, and bloating. This condition is called lactose intolerance (LI).

Indications for genetic analysis:

• Differential diagnosis of lactose intolerance and other gastrointestinal disorders in adults, especially in the presence of symptoms (diarrhea, bloating, pain) after consuming dairy products.
• Examination of children during the weaning period to prevent unexpected intestinal disorders, especially in cases of increased sensitivity to stress tests.

Material for research: blood.

Gilbert's syndrome is a hereditary disorder characterized by episodes of jaundice and elevated serum indirect bilirubin levels. Its prevalence is approximately 5%. Genetic testing for Gilbert's syndrome allows for an accurate diagnosis, distinguishing it from other liver diseases, and assessing the risks associated with certain medications whose metabolism depends on this enzyme. A venous blood sample is used for testing. 

When is genetic testing prescribed?

• Gilbert's syndrome is suspected when elevated levels of indirect (unconjugated) bilirubin are detected in the blood in the absence of other signs of liver damage.
• Treatment planning: When prescribing medications whose metabolism depends on the activity of the UGT1A1 enzyme, such as antibiotics or certain cancer drugs.

Material for research: blood.

Genetic testing for hemochromatosis identifies mutations in the HFE gene responsible for the disease. The test determines the presence or absence of defects C282Y, H63D, and S65C, helping to determine the hereditary nature of excess iron accumulation in the body.

When is the test prescribed?

• In the presence of clinical and laboratory signs of iron overload (high ferritin, transferrin saturation).
• In case of a positive family history of hemochromatosis type I in close relatives.
• If the disease is suspected, especially with abnormal iron metabolism in the blood.

Material for research: blood.