Diagnosis of fanconi anemia by diepoxybutane analysis

Current Protocols in Human Genetics
Arleen D Auerbach

Abstract

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.

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Citations

May 21, 2010·The New England Journal of Medicine·Alan D D'Andrea
Feb 23, 2012·The Journal of Clinical Investigation·Laure GineauEmmanuelle Jouanguy
Mar 8, 2018·Nature Communications·Gonzalo HernándezJordi Surrallés
Dec 14, 2011·Hematology·Jean Soulier
May 23, 2012·Blood·Juan P TrujilloJordi Surrallés
Jun 23, 2015·Annals of Medical and Health Sciences Research·H T El-BassyouniS A Abdel-Maksoud
Jun 23, 2021·Blood Advances·Amy E DeZern, Jane E Churpek

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