Diamond-Blackfan anemia usually presents with hypoplastic anemia in early infancy. Hematologic examination shows macrocytosis and a decrease in erythroid precursors. At least 40% of affected children have congenital anomalies including malformations of the thumb and upper limbs, craniofacial abnormalities including cleft lip and palate, heart defects and growth retardation. Affected individuals are at increased risk to develop leukemia. Defects in over 6 different ribosomal proteins have been implicated. This test addresses the 3 most commonly involved ribosomal protein genes, RPS19, RPL5 and RPL11.