Genetic diagnostics

Genetic diagnostics
  • Genetic consultation;
  • Intake of 3 ml of blood with EDTA (or provision of a DNA sample or a dried blood spot sample);
  • Analysis (sequencing) of all genes of the diagnostic panel using next-generation sequencing technologies (NGS);
  • Analysis and interpretation of sequencing data by an interdisciplinary team of geneticists and physicians;
  • Provision of the detailed medical report with results and conclusion;
  • Discussion of results with a geneticist.

Genetic predisposition plays an important role in the emergence of so-called “diseases of civilization”: cardiovascular diseases, cancer, etc. However, the individual genetic predisposition to a particular disease does not mean the inevitability of the onset of this disease. Many external factors, such as lifestyle, nutrition balance, physical activity level etc., can play a decisive role in the genesis or “desactivation” of a genetically determined disease. In addition, there is the possibility of undergoing an intensified program of early genetic screening the profile of the disease to which the patient is genetically predisposed, and thus, beginning with the therapy at the earliest possible stage. Consequently, the awareness of the genetic predisposition to a disease in such cases can prevent or delay the manifestation of the disease, and also contribute to the success of therapy.

The PRADUS diagnostic center offers screening panels, developed by the CeGat institute, that determine the individual genetic predisposition to the various groups of diseases:

  • oncological diseases;
  • cardiovascular diseases;
  • coagulopathy (blood coagulation disorder, including thrombosis);
  • hepatocerebral dystrophy and hemochromatosis;
  • hypercholesterolemia;
  • glaucoma;
  • malignant hyperthermia.

In addition, within the framework of pharmacogenetic analysis, the metabolism and efficacy of certain medications can be studied.