Cytogenetics – Copy number variations Analysis Services

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.