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
  • 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
  • Capillary Sequencing

Ordering

1436
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 288.1 Functional disorders of polymorphonuclear neutrophils, Chronic (childhood) granulomatous disease, Congenital dysphagocytosis, Job's syndrome, Lipochrome histiocytosis (familial), Progressive septic granulomatosis
* For price inquiries please email zebras@genedx.com

References

  1. Heyworth PG, et al, 2001, Hematologically Important Mutations: X-linked chronic granulomatous disease (second update), Blood Cells Molecules and Diseases 27:16.
  2. Yu G et al, 2008, Focus on FOCIS: The continuing diagnostic challenge of autosomal recessive chronic granulomatous disease.

Forms and Documents

Test Details

CYBB
  • 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
  • Capillary Sequencing

Ordering

1434
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 288.1 Functional disorders of polymorphonuclear neutrophils, Chronic (childhood) granulomatous disease, Congenital dysphagocytosis, Job's syndrome, Lipochrome histiocytosis (familial), Progressive septic granulomatosis
* For price inquiries please email zebras@genedx.com

References

  1. Yu G et al, 2008, Focus on FOCIS: The continuing diagnostic challenge of autosomal recessive chronic granulomatous disease.
  2. Heyworth PG, et al, 2001, Hematologically Important Mutations: X-linked chronic granulomatous disease (second update), Blood Cells Molecules and Diseases 27:16.

Forms and Documents

Test Details

NCF1 (Exon 2)
  • Confirmation of clinical or laboratory diagnosis.
  • Identification of the involved gene
  • Carrier testing or rapid diagnosis in relatives
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

1435
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 288.1 Functional disorders of polymorphonuclear neutrophils, Chronic (childhood) granulomatous disease, Congenital dysphagocytosis, Job's syndrome, Lipochrome histiocytosis (familial), Progressive septic granulomatosis
* For price inquiries please email zebras@genedx.com

References

  1. Heyworth PG, et al, 2001, Hematologically Important Mutations: X-linked chronic granulomatous disease (second update), Blood Cells Molecules and Diseases 27:16
  2. Yu G et al, 2008, Focus on FOCIS: The continuing diagnostic challenge of autosomal recessive chronic granulomatous disease

Forms and Documents

Test Details

NCF2
  • Confirmation of clinical or laboratory diagnosis.
  • Identification of the involved gene
  • Carrier testing or rapid diagnosis in relatives
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

1437
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 288.1 Functional disorders of polymorphonuclear neutrophils, Chronic (childhood) granulomatous disease, Congenital dysphagocytosis, Job's syndrome, Lipochrome histiocytosis (familial), Progressive septic granulomatosis
* For price inquiries please email zebras@genedx.com

References

  1. Heyworth PG, et al, 2001, Hematologically Important Mutations: X-linked chronic granulomatous disease (second update), Blood Cells Molecules and Diseases 27:16
  2. Yu G et al, 2008, Focus on FOCIS: The continuing diagnostic challenge of autosomal recessive chronic granulomatous disease