Anyone who has displayed the physical characteristics and symptoms of FA or who develops aplastic anemia should be tested for FA. Initially, blood tests will be done to check for low white blood cell, red blood cell and platelet counts and other abnormalities.
In addition to a complete medical history and thorough physical exam, testing can be performed to diagnose FA which may include chromosomal breakage studies (DEB +/- MMC) and genetic testing to look for the causative gene.
Upon diagnosis, patients will be referred to a multidisciplinary team of specialists, including a hematologist and other specialists with expertise in Fanconi anemia, who can treat both FA and the complications of the condition.
Families will also learn about treatment options and meet with the bone marrow transplant team. Routine testing on vital organs may also be conducted to check for any abnormalities.