Health Topic

Fanconi anemia

Disease Information

Tests

Fanconi anemia in children is usually discovered between birth and age 15, but there have been cases of FA first recognized in adults. Sometimes cancer is the first sign that an adult patient has FA.

Your child’s physician may order a number of different tests to make a diagnosis of Fanconi anemia:

  • blood tests
  • The DEB or chromosome breakage test, the standard definitive test for FA at this time
  • bone marrow aspirate and biopsy to determine the extent of aplastic anemia and look for early signs of leukemia
  • blood samples may be examined in order to identify the specific FA gene present

After we complete all necessary tests, our experts meet to review and discuss what they have learned about your child's condition. Then we will meet with you and your family to discuss the results and outline the best treatment options.

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