Figure 2.

Pre- and post-test diagnosis classification of patients. Numbers of patients classified into each diagnostic group, (i) inherited bone marrow failure syndrome (IBMFS), (ii) acquired aplastic anemia (aAA) or hypoplastic MDS (hMDS) or (iii) clinically unclassifiable bone marrow failure (UBMF) as evaluated prior to genomic testing (pre-test diagnosis) and again following genomic testing (posttest diagnosis) with transitions indicated by the connecting lines (in addition three patients changed diagnosis within the aAA/hMDS category from aAA to MDS). RCC: refractory cytopenia of childhood; tMN: therapy related myeloid neoplasm.