Chronic granulomatous disease

Diagnosis

Mayo Clinic doctors diagnose chronic granulomatous disease (CGD) and other primary immunodeficiency disorders.

To diagnose your condition, your doctor will review your family and medical history and conduct a physical examination. Your doctor may order several tests to diagnose chronic granulomatous disease.

• 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.