Patients with Fanconi Anemia (FA) typically have various physical abnormalities, develop bone marrow failure at some point during their lifetime, and have an increased chance of malignancy. Physical abnormalities include such features as short stature; malformations of the thumbs, forearms, skeletal system and other organs; abnormal skin pigmentation; and developmental delay. Usually bone marrow failure presents during the first decade of life and by age 40-48 the risk of developing bone marrow failure is 90%. Typically the condition is inherited in an autosomal recessive manner. Approximately 66% of patients with FA have a mutation in the gene encoding FANCA, 10% have a mutation in the gene encoding FANCC, and 9% have a mutation in the gene encoding FANCG.
This laboratory performs Sanger sequencing of the FANCA gene, FANCC gene, and the FANCG gene.