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Genetics and Personalized Medicine

Mollecular diagnostics of pathogens

The modern analyses based on detection of nucleic acids (DNA or RNA) offer a significant number of advantages compared to traditional methods for pathogen detection. These procedures detect viruses, bacteria and parasites much faster and with much greater sensitivity and specificity than conventional methods. Consequently, the cause of the disease is revealed much faster and more accurately and allows the administration of appropriate therapy in the fastest time period.

  • Hepatitis C (with quantification)
  • HIV (with quantification)
  • Hepatitis C/HIV/Hepatitis B (all three in one test)
  • HPV (detection and typification)
  • Sexually transmitted diseases (9 simultaneously) - C.trachomatis, N.gonorrhoeae, M.genitalium, HSV1, HSV2, T. pallidum, U.parvum, U.urealyticum, M.hominis
  • TORCH diseases (for pregnant women) - T.gondii, HSV1, HSV2, T. pallidum, Rubella, CMV, Parvovirus
  • Helicobacter pylori
  • Sepsis

Cystic fibrosis

Cystic fibrosis (CF) is an autosomal recessive disease that occurs early in life and often shortens the lifespan. It occurs in 1 of 2.500 newborn babies, and 1 in 25 people of European origin is a holder of the mutant gene. There are more than 1965 variations in the CFTR gene, of which less than 20 have a frequency above 0.1%. Routine screening is limited only to the most common mutations in the CFTR gene, which increases the risk of missing mutations that cause the disease, however have low frequency. Now, these mutations, together with the most common ones, can be detected with a comprehensive and sensitive CFTR kit. These tests can be used to complete the diagnosis of cystic fibrosis or to determine its holders.

Noninvasive prenatal diagnostics

Non-invasive prenatal testing (NIPT) is a reliable, simple and non-invasive test for determining certain genetic conditions in the fetus starting from the tenth week of pregnancy. What is needed is only 10 ml of blood taken from the future mother. Using the latest genetic sequencing technology, these tests have over 99% accuracy for the most common conditions of trisomy such as Down’s, Edwards’ or Patau’s syndromes. NIPT also detects a number of other genetic conditions such as trisomies of other chromosomes, aneuploidies, deletion/duplication syndromes, and sex determination.