Fluorescence in situ hybridization techniques in medical diagnostics

Fluorescence in situ hybridization (FISH) has become a well-established method in medical diagnostics. FISH methods complement conventional cytogenetic banding techniques and offer extra clinical applications. FISH is based on the binding of complementary, single-stranded fluorescence-labeled nucleic acid sequences to the fixed and denatured target DNA of metaphases, interphase nuclei or isolated DNA sequences (BACs, oligonucleotides).

The intent of this article is to review the development of molecular cytogenetic techniques available at present and to summarize the most efficient and appropriate use of these techniques in medical diagnostics. The technical aspects and most important applications of FISH assays are described.

FISH is bridging the gap between conventional cytogenetic banding analysis and molecular genetic DNA studies. The use of FISH techniques enhances the correct interpretation of numerical and structural chromosome aberrations.