The cytogenetic analysis of haematological malignancies plays a major role in diagnosis. A large number of non-random chromosomal abnormalities are associated with specific types of leukaemia. Often, the cytogenetic result provides the definitive diagnosis. The recent developments in molecular cytogenetic technologies, in association with conventional cytogenetic analysis, have improved the accuracy of the results and led to the finding of new chromosomal abnormalities in leukaemia. Patients may be monitored by cytogenetics, molecular techniques and/or fluorescence in situ hybridization (FISH) during the course of their management, for evidence of minimal residual disease. These techniques also provide a useful method for monitoring patients following bone marrow transplantation, particularly when the patient and the donor are of the opposite sex. The cytogenetic result is an independent prognostic indicator, with certain karyotypes associated with a good prognosis, although others indicate a poor outcome.