Fanconi Anemia: Tests
Fanconi anemia, or FA, is a rare, inherited blood disorder that leads to bone marrow failure. The disorder also is called Fanconi’s anemia.
Part of: Fanconi Anemia
About Testing for Fanconi Anemia
People who have Fanconi anemia (FA) are born with the disorder. They may or may not show signs or symptoms of it at birth. For this reason, FA isn’t always diagnosed when a person is born. In fact, most people who have the disorder are diagnosed between the ages of 2 and 15 years.
The tests used to diagnose FA depend on a person’s age and symptoms. In all cases, medical and family histories are an important part of diagnosing FA. However, because FA has many of the same signs and symptoms as other diseases, only genetic testing can confirm its diagnosis.
Specialists Involved
A geneticist is a doctor or scientist who studies how genes work and how diseases and traits are passed from parents to children through genes.
Geneticists do genetic testing for FA. They also can provide counseling about how FA is inherited and the types of prenatal (before birth) testing used to diagnose it.
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