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Chronic Granulomatous Disease (CGD)
CGD is a congenital immunodeficiency with recurrent severe infections including pneumonia, lymphadenitis, skin and hepatic abscesses, osteomyelitis and septicemia. Infections usually become apparent during the first year of life. Phagocytic neutrophils are unable to produce a bactericidal respiratory burst due to a deficiency of one of the component proteins of the NADPH oxidase complex. The [...]
+ Mutation-specific testing + Prenatal testingCGD is a congenital immunodeficiency with recurrent severe infections including pneumonia, lymphadenitis, skin and hepatic abscesses, osteomyelitis and septicemia. Infections usually become apparent during the first year of life. Phagocytic neutrophils are unable to produce a bactericidal respiratory burst due to a deficiency of one of the component proteins of the NADPH oxidase complex. The oxidative burst test can be used to identify X-linked cases if female patients (or the carrier mothers of male patients) show the characteristic mosaic pattern caused by X-inactivation.
+ Mutation-specific testing + Prenatal testingTests Available
- CGD Tier 1
- CGD Tier2
- CYBB Gene Sequencing
- NCF1 (Exon 2) Gene Sequencing
- CYBA Gene Sequencing
- NCF2 Gene Sequencing
- CYBB Del/Dup
- CYBA Del/Dup
- NCF2 Del/Dup
CGD Tier 1
FORMS AND DOCUMENTS
TEST DETAILS
- Genes:
- CYBB, NCF1 (Exon 2)
- Clinical Utility:
-
- Confirmation of clinical or laboratory diagnosis.
- Identification of the involved gene and the specific mutation to permit accurate genetic counseling.
- Carrier testing or rapid diagnosis in relatives
- Prenatal diagnosis
- Lab Method:
- Capillary Sequencing
ORDERING
- Test Code:
- 1431
- Turnaround Time:
- 6-7 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
BILLING
- CPT Codes:
- 81479x1
- List Price:
- $2,035.00
- Billing Information:
- View Billing Policy
- ICD Codes:
-
- 288.1: Functional disorders of polymorphonuclear neutrophils, Chronic (childhood) granulomatous disease, Congenital dysphagocytosis, Job's syndrome, Lipochrome histiocytosis (familial), Progressive septic granulomatosis
REFERENCES
- Yu G et al, 2008, Focus on FOCIS: The continuing diagnostic challenge of autosomal recessive chronic granulomatous disease.
- Heyworth PG, et al, 2001, Hematologically Important Mutations: X-linked chronic granulomatous disease (second update), Blood Cells Molecules and Diseases 27:16.
