A diagnosis of FA is confirmed through genetic tests, including chromosome breakage testing, cytometric flow analysis, and mutation screening.
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.
A geneticist is a doctor or scientist who studies how genes work and how diseases and different traits are passed from parents to children through the 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.
An obstetrician may detect birth defects linked to FA before your child is born. After your child is born, a pediatrician also can help find out whether your child has FA.
A hematologist (blood disease specialist) also may help diagnose FA.
Family and Medical Histories
FA is an inherited disease. Some parents are aware that their family has a medical history of FA, even if they don't have the disease. Other parents, especially if they're FA carriers, may not be aware of a family history of FA. Many parents may not know that FA can be passed from parents to children.
Information on your family's medical history is very important to help your doctor diagnose whether you or your child has FA or another condition with similar symptoms.
If your doctor thinks that you, your siblings, or your children have FA, he or she may ask you detailed questions about any personal or family history of anemia, surgeries related to the digestive system, or diseases of the immune system. Your doctor also may ask you about your appetite, eating habits, and the medicines you take.
If you know your family has a history of FA, or if your answers to your doctor's questions suggest a possible diagnosis of FA, your doctor will recommend further testing.
Diagnostic Tests and Procedures
The signs and symptoms of FA aren't unique to the disease. They're also linked to many other diseases and conditions, such as aplastic anemia. For this reason, genetic testing is needed to confirm a diagnosis of FA. Genetic tests for FA include the following.
Chromosome Breakage Test
This is the most common test for FA. It's available only in special laboratories (labs). It shows whether your chromosomes (long chains of genes) break more easily than normal.
Sometimes, skin cells are used for the test, but usually a small amount of blood is taken from a vein in your arm using a needle. A technician combines some of the blood cells with certain chemicals.
If you have FA, the chromosomes in your blood sample break and rearrange when mixed with the test chemicals. This doesn't happen in the cells of people who don't have FA.
Cytometric Flow Analysis
Cytometric flow analysis, or CFA, is done in a lab. This test examines how chemicals affect your chromosomes as your cells grow and divide. Skin cells a...
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