Diagnosis of hereditary diseases is a комплекс of genetic tests that allow the identification of mutations associated with inherited pathologies, assessment of disease predisposition, and prevention of their development.
When is diagnosis of hereditary diseases required?
In the presence of hereditary diseases in the family and during pregnancy planning. In cases of suspected genetic mutations, congenital anomalies, and rare genetic disorders. To identify predisposition to oncological, cardiovascular, endocrine, and neurological diseases. When examining newborns, children with developmental delays, and patients with chronic conditions of unclear origin.
Types of hereditary disease diagnostics
- Prenatal diagnostics – detection of genetic abnormalities in the fetus (Down syndrome, Edwards syndrome, Patau syndrome).
- Neonatal screening – early detection of congenital disorders in newborns.
- Oncogenetic diagnostics – assessment of hereditary cancer risk (breast, colorectal, prostate cancer).
- Cardiogenetic analysis – identification of predisposition to myocardial infarction, stroke, and hypertension.
- Diagnostics of metabolic disorders – phenylketonuria, cystic fibrosis, galactosemia, and other inborn errors of metabolism.
How is the examination performed?
For analysis, a buccal swab (cheek epithelium), venous blood, or amniotic fluid (in prenatal diagnostics) is used. Genetic information is stable throughout life; therefore, the test is usually performed once. The results are analyzed by specialists and provided in the form of a report with clinical recommendations.
Main advantages of hereditary disease diagnostics in Belarus
Early detection and prevention of hereditary pathologies. Personalized medicine with treatment selection and long-term health monitoring based on DNA data. High diagnostic accuracy and the possibility of family screening.
Belarusian laboratories are equipped with modern genetic technologies that ensure accurate diagnostics. Experienced specialists interpret the results and provide personalized recommendations.
