Applications of Comparative Genomic Hybridization in a Clinical Cytogenetics Laboratory

Comparative Genomic Hybridization (CGH) provides a method to rapidly detect amplifications and deletions of chromosomal material as small as 10 Mbp (Bentz et al. 1998) in an entire genome. Thus, this modem molecular cytogenetic technique was investigated in order to optimize a working protocol. DNA from a test sample and a reference sample was isolated, fluorescently labeled, and hybridized to normal male metaphase spreads. The spreads were then viewed using a fluorescent microscope and imaged using Perceptive Scientific Instruments’ (PSI) MacProbe fluorescence imaging program. Predicted results were found in some cases, but not in others, indicating that further testing is needed before CGH can be reliably used for clinical testing ofpatients.