The list of medical tests mentioned in various sources as used in the diagnosis of Chronic Granulomatous Disease includes:
The doctor will order lab tests to look for certain blood abnormalities including an increased number of white blood cells and low number of red blood cells (anemia). Patients also often have abnormal chest x-rays, excessively high level of immunoglobulins in the blood (hypergammaglobulinemia), and elevated erythrocyte sedimentation rate or ESR (a sign of chronic infection or or inflammation). They usually have normal antibody levels. To confirm a CGD diagnosis, specialized laboratories perform various tests of the function of phagocytes, a type of white blood cell. The phagocyte’s job is to kill bacteria and fungi. (Source: excerpt from Primary Immune Deficiency, NIAID Fact Sheet: NIAID)
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Clinical features of osteomyelitis, pneumonia, liver abscess, or chronic lymphadenopathy in a young child provide the first clues to CGD diagnosis.
Patients with CGD show impaired NBT reduction, indicating abnormal neutrophil metabolism. Another test measures the rate of intracellular killing by neutrophils; in CGD, killing is delayed or absent.
Other laboratory values may support the diagnosis or help monitor disease activity. Osteomyelitis typically causes elevated white blood cell count and erythrocyte sedimentation rate; bone scans help locate and size such infections. Recurrent liver or lung infection may eventually cause abnormal function studies. Cell-mediated and humoral immunity are usually normal in CGD, although some patients have hypergammaglobulinemia.
Source: Professional Guide to Diseases (Eighth Edition), 2005
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