Journal issues > Issue 1, March 2014 > The cytogenetic and molecular diagnosis of haematological malignancies: an overview of current techniques

The cytogenetic and molecular diagnosis of haematological malignancies: an overview of current techniques

By: N. Put MD, PhD, L. Michaux MD, PhD, P. Vandenberghe MD, PhD

Summary

The presence, number and/or type of chromosomal aberrations represent an independent predictor of prognosis in several haematological disorders. Therefore, (cyto)genetic analysis is now routinely performed in many haematological malignancies. Different techniques are available to detect chromosomal abnormalities. Conventional cytogenetic analysis can be performed, and also interphase fluorescent in situ hybridisation is widely used. In addition, multiplex ligation-dependent probe amplification and more recently analysis by means of different array-platforms have been used in research and routine setting. Newly developed techniques, such as next-generation sequencing are only available for research purposes thus far. All these techniques are complementary, and each technique has its own (dis)advantages.

(BELG J HEMATOL 2014;5(1):3–11)

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