The availability of NGS testing prompts early evaluation for germline mutations in the GATA2, SAMD9/9L, ERCC6L2, and EVI1 genes, telomere biology disorders/dyskeratosis congenita, Fanconi anemia, ribosomopathies (Shwachman-Diamond syndrome, Diamond-Blackfan anemia) when appropriate, but especially in children and young adults or patients with atypical or nonhematological manifestations. This evidence concerns the gene SAMD9 and Blackfan-Diamond anemia.