Diagnosis

To diagnose CGD, your doctor will review your family and medical history and conduct a physical exam. Your doctor may order several tests to diagnose CGD, including:

• Neutrophil function tests. Your doctor may conduct a dihydrorhodamine 123 (DHR) test or other tests to see how well a type of white blood cell (neutrophil) in your blood is functioning. Doctors usually use this test to diagnose CGD.
• Genetic testing. Your doctor may request a genetic test to confirm the presence of a specific genetic mutation that results in chronic granulomatous disease.
• Prenatal testing. Doctors may conduct prenatal testing to diagnose CGD if one of your children already has been diagnosed with CGD.