Fluorescence In Situ Hybridization

Abstract

Dr. Seuss’s eloquent “One FISH, two FISH, red FISH, blue FISH” () could have been describing one of the most significant advancements in clinical cytogenetics, fluorescence in situ hybridization (FISH). The process, as described by Pinkel et al. in 1988 (), involved fluorescent detection of probe DNA hybridized to chromosomal target sequences. The overall hybridization was essentially the same one that had been in use with radioactive probes, but the major advantage was the incorporation of fluorescent detection of the probe sequences that allowed for high sensitivity in a simple and quick assay. In the ensuing years, “molecular cytogenetics,” as it has come to be called, has become an integral part of the clinical cytogenetics laboratory and has been accepted as standard of care for the study of a host of chromosomal aberrations. Standardized nomenclature rules for FISH were published in The International System for Cytogenetic Nomenclature (ISCN 1995; see Chapter 3) and the American College of Medical Genetics (ACMG) has developed standards and guidelines for the use of FISH in clinical laboratory testing (http://www.acmg.net).