The clinical laboratory employs various forms of chromosome analysis to detect chromosome abnormalities associated with genetic diseases, including birth defects, developmental defects, and cancer. The research laboratory uses a variety of chromosomal banding methods, as well as fluorescence in situ hybridization (FISH) of DNA probes to chromosomes to study genetic changes in disease. Rearrangements of chromosomes are fundamental biological indicators of the malignant process, and cytogenetics/FISH provides important diagnostic and prognostic information about specific malignancies. The current research focus is on FISH evaluation of hematologic malignancy.
Figure Legend: Arrows indicate amplified copies of the gene RUNX1 (red) on chromosome 21 in a pre B-cell acute lymphocytic leukemia as identified by fluorescence in situ hybridization (FISH).