90–95% of CML cases have the characteristic t(9;22) translocation resulting in the Philadelphia chromosome, which can be detected by karyotyping and FISH.
A karyotype produces an image of an individual's chromosomes. It involves organizing and visualizing the chromosomes from a cell to study their number, size, shape, and any structural abnormalities. An image of a normal karyotype can be seen on the right. An image displaying the Ph chromosome can be seen under it.