Chronic granulomatous disease (CGD) [8 genes]

Chronic granulomatous disease (CGD) is a disorder of neutrophils, where impaired NADPH oxidase activity is caused by a defect in one of the five protein subunits of the NADPH oxidase complex, resulting in failure to kill certain bacteria and fungi. The proteins of the NADPH oxidase complex are encoded by genes CYBB, CYBA, NCF1, NCF2, and NCF4. Genetic counseling and specific prognosis are possible after the disease-causing mutation detection.

1/250,000

  • Differential diagnosis and genetic counseling
  • Hematopoietic stem cell transplantation (HSCT)
  • Gene therapy
  • Prophylaxis with antibacterials and/or antifungals

The identification of a disease-causing genetic defect in one of the panel’s genes allows for a precise molecular diagnosis of the disease and the appropriate genetic counseling based on the inheritance pattern associated with the genetic finding. Prevention of primary manifestations in CGD is important and includes antibiotic/antifungal prophylaxis, immunomodulatory therapy, and HSCT transplantation.

CGD should be suspected when a patient presents, especially caused by severe or chronic bacterial infections:

  • Childhood growth restriction
  • Pneumonia
  • Lymphadenitis
  • Osteomyelitis
  • Abscesses or cellulitis
  • Granuloma formation, especially in the genitourinary and gastrointestinal tract
  • Colitis
  • Abnormal wound healing due to excess granulation

CGD-associated infections involve a restrictive spectrum of pathogens, so pathogen isolation is useful to direct suspicion of the disease. Biochemical tests of direct measurement of superoxide production in neutrophils also allow the establishment of CGD diagnosis.

The precise diagnosis of CGD is established when a pathogenic genetic defect is identified in one of the genes that make up the CGD panel.

Request study Informed consent
Steps to follow
Steps to follow

How to order

1. Download & fill out

Please cover as many fields as possible in both documents

2. Sample collection

Three sample types: saliva, peripheral blood or genomic DNA

3. Pack the sample

Please pack the sample in a way to prevent leakage

4. Send the sample & the request

Please schedule the delivery for Monday–Friday: 8am – 5pm

5. Result: the report

Via: e-mail and/or through the customer portal

Ask for information
Solicita información de

Chronic granulomatous disease (CGD)

"*" indicates required fields

Consentimiento*
This field is for validation purposes and should be left unchanged.
Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202110288

Chronic granulomatous disease (CGD): View panel
  • C17orf62
  • CYBA
  • CYBB
  • NCF1
  • NCF2
  • NCF4
  • NOD2
  • RELA

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

References

  1. Âhlin A, Fasth A. Chronic granulomatous disease – conventional treatment vs. hematopoietic stem cell transplantation. Curr Opin Hematol. 2015;22(1):41-45. doi:10.1097/MOH.0000000000000097
  2. Arnold DE, Heimall JR. A Review of Chronic Granulomatous Disease. Adv Ther. 2017;34(12):2543-2557. doi:10.1007/s12325-017-0636-2
  3. IUIS Scientific Committee. Primary Immunodeficiency Diseases. Vol 118. (Rezaei N, Aghamohammadi A, Notarangelo LD, eds.). Berlin, Heidelberg: Springer Berlin Heidelberg; 2017. doi:10.1007/978-3-662-52909-6
  4. Richardson AM, Moyer AM, Hasadsri L, Abraham RS. Diagnostic Tools for Inborn Errors of Human Immunity (Inmunodeficiencias primarias and Immune Dysregulatory Diseases). Curr Allergy Asthma Rep. 2018;18(3):19. doi:10.1007/s11882-018-0770-1
  5. Seger RA. Advances in the diagnosis and treatment of chronic granulomatous disease. Curr Opin Hematol. 2011;18(1):36-41. doi:10.1097/MOH.0b013e32834115e7