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 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.

Tests Available

Forms and Documents

Test Details

CYBA, CYBB, NCF1, NCF2, NCF4
  • Confirmation of clinical or laboratory diagnosis.
  • Carrier testing or rapid diagnosis in relatives.
  • Prenatal diagnosis.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis
  • Capillary Sequencing

Ordering

T989
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Yu G et al. Focus on FOCIS: the continuing diagnostic challenge of autosomal recessive chronic granulomatous disease. Clinical Immunology (Orlando, Fla.). 2008 128(2):117-26.18625437
  2. Roos D et al. Hematologically important mutations: X-linked chronic granulomatous disease (third update). Blood Cells, Molecules & Diseases. 2010 45(3):246-65.20729109
  3. Roos D et al. Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update). Blood Cells, Molecules & Diseases. 2010 44(4):291-9.20167518
  4. Matute JD et al. A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity. Blood. 2009 Oct 8 114(15):3309-15.19692703