Cytogenomics is used as a general term that encompasses conventional karyotyping, as well as molecular cytogenetics (fluorescence in situ hybridization-FISH), microarrays and molecular-based techniques.

With advancing technologies and consequent shift towards an increasing application of molecular genetic techniques with the potential for higher resolution, as well as the application of multiple testing strategies for the diagnosis of chromosomal disorders, it is important that testing laboratories keep up with technology and provide guidance to this even-changing testing scenario.