Structural variations include deletions, insertions, duplications, copy number variations, inversions, translocations within long DNA fragments of 1kB – 3 MB. CNVs (copy number variations) are the largest group of structural variations. These are genomic changes resulting in incorrect number of copies of one or more genes. Genomic structural rearrangements such as duplications, deletions, translocations and inversions may be the cause of CNVs. Similarly to SNVs (single nucleotide variations), some CNVs are associated with disease entities.
Our offer includes SVs analysis comprised of:
- SVs detection;
- Determining the frequency rate of a variation in European, Asian, American, African and global populations;
- Determining the pathogenicity of a variation and the effect of its occurrence;
- Correlating a detected variation with disease entities;
- Selecting pharmacological therapy;
- A list of available medical clinics and experimental researches in Poland and abroad;
- Annotation of detected variations to the information in biological and diagnostic databases.