Diagnosis of fanconi anemia by diepoxybutane analysis

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. Basic Protocol in this unit applies the DEB test to rule out a diagnosis of FA using a peripheral blood sample from the patient. Support Protocol 1 provides instructions for working with DEB. Support Protocol 2 describes staining slides for chromosome-breakage analysis that is performed on unbanded metaphase preparations. Alternate Protocol 2 provides a detailed method for applying the DEB test to cultured fibroblasts that grow as a monolayer attached to the bottom of the flask. outlines methods for using the DEB test for prenatal diagnosis of FA, utilizing fetal cells obtained by chorionic villus sampling (CVS), amniocentesis, or fetal blood sampling. Fanconi anemia (FA) is an autosomal recessive syndrome characterized by progressive pancytopenia and a high risk of malignanci.