Cytogenetics – Copy number variations Analysis Services

Analysis of structural variations by Saphyr from Bionano Genomics

Bionano Genomics’ technology uses very long (> 300 kb) tagged DNA fragments to identify structural variations, such as CNVs (Copy Number Variations), large insertions and deletions, inversions and translocations, which are impossible to detect using conventional sequencing or genotyping approaches. This instrument can also be used to identify germline or somatic variations, and even to assemble new genomes.

This new tool, which is revolutionizing cytogenomics, is now available at CES.

For more information or to request a quote, please contact the Customer Management Office.

NVC analysis

Several technologies are available to study genome copy number variations (CNV) and for cytogenetic studies. The capacity of detection of the diverse chromosomal aberrations depends on the chosen technology.

Please find below a list of the main mutations that can be detected:

  • Amplifications
  • Deletions
  • Chromosomal rearrangements
  • Copy number changes (CNV)
  • Intercellular mosaicism
  • Loss of heterozygocity (LOH)
  • Copy-neutral loss of heterozygocity (cnLOH)
    • Uniparental disomy (UPD)
    • Gene conversion
  • Mitotic recombination

Technologies provided

All technologies include an initial consultation to discuss experimental design and procedures.