It is essential to begin by stating that not every case of cytopenia and/or myeloid dysplasia will be considered an MDS or even caused by a clonal disorder at all. Many factors, most already mentioned in this course, contribute to diagnosing MDS.
In some cases, MDS can be easily diagnosed when the blasts in the blood or bone marrow are increased and the presence of abnormal cytogenetics is discovered. Other cases may require a thorough history of exposure to drugs, chemotherapeutic agents, radiation, or chemicals. Further testing, typically including repeated bone marrow biopsies with cytogenetic evaluations over several months, is recommended to establish the MDS diagnosis.