Fanconi anemia (FA) is an autosomal recessive syndrome characterized by progressive
pancytopenia and a high risk of malignancies, particularly acute myelogenous leukemia
(AML). Diepoxybutane (DEB) analysis is the preferred test for FA because other agents have
higher rates of false‐positive and false‐negative results. in this unit applies the DEB test to
rule out a diagnosis of FA using a peripheral blood sample from the patient. provides
instructions for working with DEB. describes staining slides for chromosome‐breakage …

Fanconi anemia (FA) is a genetically and phenotypically heterogeneous disorder
characterized by congenital malformations, progressive bone marrow failure, and
predisposition to cancer, particularly hematological malignancies and solid tumors of the
head and neck. The main role of FA proteins is in the repair of DNA interstrand crosslinks
(ICLs). FA results from pathogenic variants in at least sixteen distinct genes, causing
genomic instability. Although the highly variable phenotype makes accurate diagnosis on …