Diagnosing Fanconi Anemia

Children can be diagnosed with Fanconi anemia at any time, but FA is often diagnosed in early childhood and usually by the teenage years. However, mild cases occasionally go undiagnosed until adulthood.

Chromosomal breakage studies and genetic testing for Fanconi anemia

To start, your child will undergo special FA-focused tests called chromosomal breakage studies, which are usually done on blood cells, although if the tests are not conclusive, we can also perform them on skin cells. Further genetic testing is often done to determine which genetic subtype of FA your child has, and genetic counseling is encouraged to determine how this may affect your child or other family members.

Fanconi anemia assessment

We will recommend that your child receive a variety of annual tests, including bone marrow studies, to determine how FA is impacting your child’s health. We go beyond standard testing and provide cytogenetics (a study of the strength of chromosomes) and innovative molecular and cellular testing to assess bone marrow stability. This includes an assessment to help us understand how FA is affecting your child’s organs.