Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia disorder associated with reduced or absent erythroid precursors in bone marrow, macrocytic anemia and reticulocytopenia. Approximately 30% of cases have growth retardation and 50% have congenital anomalies, which may include thumb anomalies, congenital heart defects and midline facial defects such as cleft palate and hypertelorism. Patients have an increased risk of malignancies, including acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors such as osteogenic sarcoma. The cumulative incidence of solid tumors or leukemia is 22% by age 46. DBA is a genetically heterogeneous condition, with the currently known genes accounting for 50-70% of cases. All the DBA genes included on this panel are inherited in an autosomal dominant manner. An estimated 55-60% of cases are caused by de novo mutations; DBA has variable expressivity and penetrance is incomplete.
Our Diamond-Blackfan Anemia Sequencing Panel includes sequence analysis of the following 8 genes: RPL11, RPS19, RPL35A, RPS24, RPL5, RPS26, RPS10, RPS7.
NOTE: Blood samples are not accepted for patients with bone marrow failure only if there is no history of hematologic malignancies or MDS. Cultured skin fibroblasts is the recommended specimen type for patients with a history of MDS/leukemia (2 T-25 flasks). Please contact the laboratory for more information about specimen requirements.
Please use our Hereditary Cancer Requisition Form to order this test.
Any gene in the Diamond-Blackfan Anemia Sequencing Panel can also be ordered individually. Please contact us directly for cost and CPT code information.