Detection of SNVs and rare mutations

SNVs stand for Single Nucleotide Variants in a genome, determining the variability in a population. It is estimated that approximately 90% of single nucleotide variants are SNVs of the frequency rate greater than 1%. The frequency rate of SNV smaller than 1% determines the occurrence of rare mutations. Rare mutations are often correlated with various disease units and their detection is a key factor in medical diagnostics.

Our offer includes the analysis of SNVs and rare mutations involving:

  • SNV detection;
  • Rare mutations detection;
  • Determining the frequency rate of a variant in European, Asian, American, African and global populations;
  • Determining the pathogenicity of a variant and the effect of its occurrence;
  • 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.