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How Myelodysplastic Syndrome is Diagnosed Even in the area of molecular medicine, the diagnosis of myelodysplastic syndromes (MDS) is based on the morphological evaluation of the bone marrow and the analysis of conventional metaphase cytogenetics. The same holds true for classification according to WHO 2016 and prognostication according to the Revised International Prognostic Scoring System (IPSS-R). History and physical examination together with laboratory analyses and a thorough evaluation of the peripheral blood smear provide clues with regard to the differential diagnosis of cytopenic states, before a bone marrow puncture is performed. If a case of MDS is suspected, the basic evaluation relies on both cytology of the aspirate and histology of a trephine biopsy, which should, together with the peripheral blood smear, be regarded as complementary methods for the evaluation of the myeloid compartment of the hematopoietic system. Conventional metaphase cytogenetics represent the second essential diagnostic tool. These methods can be supplemented on an individual basis by flow cytometric studies, certain molecular techniques (fluorescence in situ hybridisation [FISH] and single nucleotide polymorphism [SNP] arrays), which allow a more sensitive detection of genomic changes on the chromosomal level and the comprehensive detection of mutations in genes associated with myeloid neoplasia by next generation sequencing (NGS). Up to now, determining the mutational status is only mandatory in the diagnosis of MDS-forms with ringed sideroblasts, where the detection of a SF3B1 mutation allows the diagnosis in cases with> 5% ringed sideroblasts. However, the role of NGS-based comprehensive mutational analysis is expanding and it may expected for the future, that comprehensive myeloid NGS panels will be used in a standardized manner for the diagnostic work-up including refined prognostication, the identification of druggable targets and for individualized monitoring of the minimal residual disease remaining after hematopoietic stem cells transplantation.