The BCR::ABL1 gene mutation can be detected by PCR and other cytogenetic and molecular diagnostic techniques, such as FISH.
FISH is a technique that uses fluorescently labeled DNA probes that bind to specific chromosome regions. When viewed under a fluorescence microscope, these probes emit light, allowing for the visualization of specific genetic material within a cell. In the image, the top pattern represents normal cells (BCR::ABL1 negative). BCR is labeled green, and ABL1 is labeled red. There is no overlap in color. In the bottom pattern, there is one normal chromosome 9 and 22, and an elongated chromosome 9 and truncated chromosome 22 (Ph chromosome). There is evidence of the BCR::ABL1 gene fusion by the green and red overlap.
2. Raca, Gordana. “BCR-Abl Fish.” ImageBank, https://imagebank.hematology.org/image/60151/bcrabl-fish.
