Chronic Granulomatous Disease, X-Linked (CYBB) Sequencing
Ordering Recommendation

Molecular test to confirm a diagnosis or assess carrier status for X-linked chronic granulomatous disease.

Polymerase Chain Reaction/Sequencing
Within 14 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
Lavender (EDTA), Pink (K2EDTA), Yellow (ACD). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Unacceptable Conditions
Ambient: 1 week; Refrigerated: 1 month; Frozen: 6 months 
Reference Interval
Interpretive Data
Background Information for Chronic Granulomatous Disease, X-Linked (CYBB) Sequencing:
Characteristics of chronic granulomatous disease (CGD):
A primary immunodeficiency disorder characterized by recurrent, severe bacterial and fungal infections of the skin, lymph nodes, liver, lungs, bones, or visceral organs. Dysregulated inflammatory responses result in granulomas.
Incidence: Approximately 1 in 250,000 births.
Inheritance: X-linked recessive for CYBB; de novo variants in 10-20 percent of affected males.
Cause: Pathogenic variants in the X-linked CYBB gene (60-70 percent), pathogenic variants in autosomal recessive genes NCF1 (25 percent), CYBA (Less than 5 percent), NCF2 (Less than 5 percent) and NCF4 (very rare).
Clinical Sensitivity: 51-60 percent for CGD.
Methodology: Bidirectional sequencing of the CYBB coding region and intron-exon boundaries.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Regulatory region variants, deep intronic variants, and large duplications will not be detected in patients of either sex; large deletions will not be detected in females. Variants in genes other than CYBB are not evaluated.

Hotline History
View Hotline History
Component Test Code*Component Chart NameLOINC
3000542CYBB FGS Specimen31208-2
3000543CYBB FGS Interpretation48734-8
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
  • CGD
  • CGD mutation testing
  • CYBB
  • CYBB X-Linked Mutation