Diagnosis of Fanconi Anemia by Diepoxybutane Analysis

Abstract excerpt

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...

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