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Chronic Granulomatous Disease
CYBB (X-linked form)
NCF1, NCF2, CYBA (Autosomal recessive forms)
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. The DHR test sometimes can specifically identify carriers of X-linked CYBB mutations because of the characteristic mosaic pattern due to X-inactivation. GeneDx does not provide DHR testing.
In ordering this test, please specify which screening package or single genes are desired.
If the family history or DHR results do not suggest one particular protein, we suggest approaching testing based on the relative incidence of the four deficiencies, as listed below. If there is a compelling need to pre-identify one gene to target, GeneDx can provide contact information for antibody-based subgroup identification, offered elsewhere on a research basis.
More common, offered as CGD Primary Screen:
91-phox
CYBB gene
Full coding/splice site sequencing
47-phox
NCF1 gene
Common GT deletion
Less common, offered as CGD Secondary Screen:
p22-phox
CYBA gene
Full coding/splice site sequencing
p67-phox
NCF2 gene
Full coding/splice site sequencing
One or more tests can be performed on DNA isolated from 2-5 mL peripheral blood or one pair of GeneDx buccal (cheek) brushes. Note, blood specimens should not be used for this test post-BMT or within 120 days of a transfusion including white blood cells.
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
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