Chromosome diagnostics


Genome Diagnostics Nijmegen offers Chromosome diagnostics by applying Fluorescent In Situ Hybridization (FISH) to determine the copy number of a certain chromosome or chromosomes in metaphases as well as interphases/nuclei (nuc ish), for instance in case of a possible (low grade) mosaicisme in Turner syndrome or Pallister-Killian syndrome. Furthermore this test can be used to assess the copy number and location of a specific chromosomal region per cell in search for a deletion or duplication. Finally, the presence of specific (small) balanced insertions or translocations in healthy carriers can be examined. Depending of the line of questioning/indication, we require a vital heparinized blood sample, unstained chromosome slides and/or a cell suspension (f.i. fibroblast cells, buccal cells, etc.) and if necessary we will select and validate suitable probes.


Chromosome diagnostics includes:
  • Region specific chromosome analysis
  • Clinical report

Costs and Turnaround time:
  • Price: Variable
  • TAT:   2-5 weeks

Available chromosome tests: