Germline testing for familial predisposition to myeloid malignancies is becoming more
common with the recognition of multiple familial syndromes. Currently, Clinical Laboratory
Improvement Amendments–approved testing exists for the following: familial platelet
disorder with propensity to acute myeloid leukemia, caused by mutations in RUNX1; familial
myelodysplastic syndrome/acute myeloid leukemia with mutated GATA2; familial acute
myeloid leukemia with mutated CEBPA; and the inherited bone marrow failure syndromes …