Chapter 14 - Molecular Cytogenetics in Molecular Diagnostics

Abstract

Over the past 3 decades, molecular cytogenetic techniques based on fluorescence in situ hybridization (FISH) applications locating specific fluorescence-labeled nucleic acid sequences in interphase cells or metaphase chromosomes have become fast, sensitive, and important complementary tools in genetic diagnostics. The use of variable FISH techniques enhances the thorough interpretation of numerical and complex chromosome aberrations, bridging the gap between conventional chromosome banding analysis and molecular genetic DNA studies. This chapter will summarize modern molecular cytogenetic diagnostics and give a brief overview of the multiple molecular cytogenetic FISH techniques and multicolor assays routinely used in genetic diagnostics today.