Diamond Blackfan Anemia Panel

Diamond Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by infantile or early childhood onset anemia. About 30% to 50% of patients present with growth retardation and/or congenital malformations of the limbs, head, face, heart, and/or genitourinary system. Patients with DBA are at increased risk of developing hematological malignancies and solid tumors, such as acute myeloid leukemia, myelodysplastic syndrome and osteogenic sarcoma. DBA is a genetically heterogeneous disorder, and is inherited in an autosomal dominant manner. X-linked thrombocytopenia with or without anemia and secondary to pathogenic variants in GATA1 is included in this panel because of its phenotypic overlap with DBA. Approximately 45% of cases are inherited from an affected parent and 55% are a result of de novo mutations. DBA shows incomplete penetrance, and therefore some individuals with pathogenic variants may not meet diagnostic criteria but may be at increased risk of developing malignancies. This test is specifically designed to detect germline pathogenic variants and is not appropriate for the detection of somatic variants in tumor tissue. The panel includes sequence and deletion/duplication analysis of all the listed genes.