How To Diagnose Chronic granulomatous disease

How is CGD diagnosed?

CGD is usually diagnosed in childhood. If there is a family history of CGD or a child has symptoms, doctors will test for this condition. Most people will have symptoms by the time they are three years old. Most people affected by CGD will be diagnosed by age five.

Genetic Testing

A doctor studies a sample of blood or tissue to identify a faulty gene that causes CGD.

Physical Exams

During a physical exam, doctors can look for inflammation and granulomas.

Blood Tests

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.

Dihydrorhodamine 123 (DHR) tests can determine how well a type of white blood cell (neutrophil) in your blood is functioning.