Genetic diagnosis

• All types of genetic research
• Consultations with a geneticist based on the results of any previously conducted genetic tests
• The opportunity to get advice from leading EMC doctors – reproductologists, pediatricians, nutritionists, etc.

The Center's areas of work:

• Genetic screening to receive personalized recommendations on lifestyle changes, nutrition, and a screening plan to prolong active longevity and manage health. This is an expanded study of human DNA features for early detection of risks and prevention of various diseases, correction of daily nutrition and physical activity – in total, more than 400 individual characteristics that are caused by the influence of genes./li>
• Nutrigenomics. Creating a personalized diet together with a leading expert nutritionist in the field of nutrition genetics.
• Family planning. Genetic examination during pregnancy planning to assess the risks of hereditary diseases in the family and the birth of a healthy child.
• Genetics in reproduction and IVF.Screening for hereditary diseases, chromosomal pathology in case of repeated cases of pregnancy loss, decreased fertility, in preparation for an IVF program to increase the successful outcome of the procedure and the birth of a healthy child.
• Examination of reproductive tissue donors. Genetic examination of oocyte and sperm donors in order to increase the success of the IVF procedure and reduce the risk of hereditary diseases in the child.
• Noninvasive Prenatal Testing (NIPT)Prenatal genetic examination of the fetus for frequent chromosomal syndromes (Down syndrome and others) in the mother's blood and other genetic tests.
• Pharmacogenetics. Individual selection of drugs and dosages depending on the genetic characteristics of their metabolism.
• Genetics in oncology. Genetic examination for predisposition to oncological diseases.
• Counseling on any passed genetic tests. A consultation for those who have already undergone genetic research. The opportunity to discuss the results of absolutely any genetic test.
• The "Unique Case" program. Diagnosis and examination in case of an unclear diagnosis with a suspected genetic component. After the diagnosis is established, an exhaustive medical document is prepared on the disease, therapy and prognosis.
• The program "Genetics of autism". A comprehensive approach to finding the cause of autism in a child, including an extended genetic examination and consultations with related specialists.

We perform all types of genetic research, including:

• Karyotype
• Extended study of the karyotype with rearrangements
• Molecular karyotype (CGH)
• Karyotype examination using fluorescence tags (FISH)

• Screening for 10 common hereditary diseases in Russia
• Advanced screening for 2,500 hereditary diseases
• Diagnosis of a separate hereditary disease
• Determination of the carrier status of an established disease in the family

• Selection of dosage of drugs for lowering cholesterol (statins)
• Choosing the optimal drug for the treatment of depression
• Determination of the exact dosage of drugs for the prevention of thrombosis (warfarin, clopidogrel)
• Assessment of the toxicity of some antitumor drugs

• Non-invasive genetic studies in early pregnancy to assess the risk of chromosomal abnormalities in the fetus
• Interpretation of the results of the 1st and 2nd pregnancy screenings
• Conducting invasive genetic diagnostics (chorionic villi biopsy, amniocentesis)

• Investigation of the genetics of cholesterol metabolism
• Predispositions to gluten and lactose intolerance
• Peculiarities of caffeine and alcohol metabolism
• Absorption of vitamins and minerals in the body
• Genetics of eating habits and perception of food taste

• Screening genetic testing (genotyping on microchips)
• Exome sequencing (NGS sequencing)
• Genome sequencing (NGS sequencing)

• Predisposition to increased thrombosis
• Cholesterol metabolism and predisposition to early atherosclerosis
• Propensity to develop multifactorial diseases (type 2 diabetes mellitus, gout, etc.)

• Karyotype
• Investigation of the status of mutation carriage on the X chromosome
• Examination for hereditary disorders of hormone metabolism

• Karyotype
• Determination of mutations In a chromosome
• Examination for hereditary diseases that reduce reproductive function

• Research of genes associated with hereditary oncological syndromes (breast cancer, ovarian cancer, colorectal cancer, etc.)

Genetic counseling:

• Assistance in choosing the optimal method and scope of genetic research

• Based on the results of genetic research
• When planning a family
• For the diagnosis of hereditary diseases and calculation of recurrent risk in the family