GeneDx :: Tests :: Chronic Granulomatous Disease

301-519-2100 • FAX 301-519-2892 • 207 PERRY PARKWAY GAITHERSBURG, MD 20877

Chronic Granulomatous Disease

CYBB X-linked CGD, p91 protein, whole gene
NCF1 Autosomal recessive CGD, p47 protein, common mutation only
NCF2 Autosomal recessive CGD, p22 protein, whole gene
CYBA Autosomal recessive CGD, p67 protein, whole gene

Gene analysis is offered for identification of the molecular basis of the neutrophil bactericidal defect in Chronic Granulomatous Disease, based on deficiency of any of the four phox proteins. An abnormal oxidative burst result in the dihydro-rhodamine (DHR) assay or the older NBT assay is characteristic of all forms of CGD. In addition, carriers of the X-linked form of CGD have a characteristic mosaic pattern in the DHR test due to X-inactivation.

GeneDx does not provide oxidative burst testing. Please be sure that DNA analysis is desired before sending a CGD test to GeneDx.

Each patient with CGD is expected to have a mutation or mutations in only ONE of the four genes. In ordering this test, please specify which gene or genes are desired and whether testing should be simultaneous or sequential. CGD is associated with the gene CYBB in 65% of cases, NCF1 in 25%, CYBA in 5% and NCF2 in 5%. The order of testing should be chosen by the physician with consideration of these frequencies as well as the family history, oxidative burst results in the patient and mother, and protein (antigen) results if available.

One or more tests can be performed on DNA isolated from 1-5 mL blood in EDTA. NEW IN 2009: Sequencing tests are supplemented by array-based exon-level testing (ExonArrrayDx) for whole exon deletions and duplications, offered as needed for each gene. For more details see the Information Sheet below.

Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options

immuno, CGD, CYBB, NCF1, NCF2, granulomatosis, CYBA, immuno, dihydrorhodamine