Despite thorough medical assessment, diagnosis of inherited bone marrow failure syndrome (IBMFS) is often significantly delayed. Genomic investigations have been more often used to facilitate correct diagnosis and guide management in unexplained childhood cytopenias. We present two cases of unrelated adolescent girls with bicytopenia, unremarkable medical history and normal physical features who were diagnosed with nonclassical IBMFS ( ERCC6L2) using genetic evaluation. ERCC6L2-associated disease has been so far frequently related to neurodevelopmental delay and consanguinity and recognized as a predisposition syndrome to myeloid malignancies. Genetic testing should, therefore, be included in the contemporary approach to chronic cytopenias in children.