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.
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Most cases of Fanconi anemia are due to variants in the FANCA gene followed by FANCC and then FANCG.
It is recommended to begin with sequencing of FANCA followed by FANCC and then FANCG.
FANCC may be considered first if the family is of Ashkenazi Jewish heritage as there is a common mutation.
If there are questions regarding this test, please contact Client Services at 617-553-5880 or firstname.lastname@example.org