Diagnosing CGD usually occurs in childhood. If there is a family history of CGD or a child has symptoms, doctors will test for Chronic Granulomatous Disease.
Most people will have symptoms by the time they are three years old. Additionally, many of those affected by CGD will be diagnosed by age five.
When testing and diagnosing for CGD, a doctor studies a sample of blood, skin, hair or saliva to identify if the faulty gene that causes CGD is present.
The results of this genetic test can confirm if CGD is present in addition to the type of CGD present (e.g. X-linked, autosomal recessive).
During a physical exam, doctors can look for inflammation and granulomas in order to diagnose CGD.
Dihydrorhodamine 123 (DHR) tests for Chronic Granulomatous Disease can determine how well a type of white blood cell (neutrophil) in your blood is functioning. The results of the DHR test can determine the risk of infection, carrier status, and the type of CGD (autosomal recessive or X-linked). Knowing the level of risk for serious infections can be useful for helping to guide a treatment plan.
Nitroblue tetrazolium tests (NBT) can determine if immune cells are making substances that the body uses to fight infections. Normally, the white blood cells turn blue when NBT is added. This means that the cells should be able to kill bacteria and protect the person from infections. Please note that NBT tests can show an incorrect result and may miss mild cases of CGD.
The immune system of a person with CGD does not work properly, leaving the body prone to bacterial and fungal infections. A person with CGD will oftentimes show signs of immunodeficiency at a very young age. Learn more about the “red flag” symptoms of CGD from Dr. Harry Malech.
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