Whole-genome or whole-exome sequencing is widely used to identify nucleotide variants that cause rare and hereditary diseases. Selecting optimal nucleotide variants to best determine all of patient’s phenotypes could be time-consuming and require tests on various inheritance types (recessive, dominant, de novo). In order to determine the inheritance pattern of a given disease, we observe an increasing use of Trio-analysis, which involves the DNA analyses of three people: the mother, the father and the proband. The comparison of sequencing results of 3 related people allows for quick, precise and easy determination of their phenotype and correlated diseases.

Our offer includes the Trio-analysis comprised of:

  • detection of SNVs and rare mutations in DNA sequencing results of the father, the mother and the proband;
  • comparison of detected variants, detemining statistical relevance of the results;
  • determining the inheritance pattern (recessive, dominant, de novo);
  • determining the pathogenicity of a variant and the effect of its occurrence;
  • determining the frequency rate of a variant in European, Asian, American, African and global populations;
  • correlating a detected variant with disease units;
  • choosing pharmacological therapy;
  • a list of available medical clinics and experimental researches in Poland and abroad;
  • annotation of detected variants to the information in biological and diagnostic databases.