Figure 2.

Integration of germ line and somatic genetics into diagnostic evaluation of bone marrow failure. Clinical presentation serves as a guide for initial diagnostic evaluation for BMF and assessment for potential causes such as infection, medication, or underlying disorders. The orange boxes outline the initial clinical assessment. The green boxes outline the initial laboratory evaluation to ascertain whether a patient has bone marrow failure. The purple boxes summarize some of the general laboratory and genetic tests for germ line marrow failure disorders. The blue boxes outline somatic genetic evaluation. CBC, complete blood count; CNV, copy number variants; FISH, fluorescent in situ hybridization.