Suggested diagnostic evaluation for leukemia susceptibility syndromes. The order of the evaluation for a suspected leukemia susceptibility syndrome depends, in part, on the way in which the patient first presents. For example, the evaluation of a patient with isolated cytopenias should thoroughly investigate causes of an inherited bone marrow syndrome. Individuals presenting with AML should undergo prompt evaluation and therapeutic intervention for the AML with consideration of familial syndromes. AA, aplastic anemia; ADA, adenosine deaminase; AML, acute myeloid leukemia; IBMFS, inherited bone marrow failure syndromes; MDS, myelodysplastic syndrome; PBSC, peripheral blood stem cell.