Genetic Testing For Fanconi Anemia

Fanconi anemia (FA) is an inherited disorder characterized by congenital abnormalities, bone marrow failure, and predisposition to hematologic malignancies. The disease is associated with early mortality and a high degree of morbidity for affected individuals. The potential utility of genetic testing is in confirming the diagnosis in cases that are inconclusive after standard workup, in testing asymptomatic individuals for future risk of disease, in carrier testing for individuals at increased risk for the variant, and in the prenatal testing of a fetus that has a high-risk for the disorder.