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Chronic Granulomatous Disease Panel (CYBB Sequencing and NCF1 Exon 2 GT Deletion)
3000544
Ordering Recommendation

Preferred test to assess common molecular causes of chronic granulomatous disease.

Mnemonic
CGD PAN
Methodology
Polymerase Chain Reaction/ Sequencing/ High Resolution Melt Analysis
Performed
Sun-Sat
Reported
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
 
Collect
Lavender (EDTA), Pink (K2EDTA), Yellow (ACD). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Refrigerated. 
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 1 week; Refrigerated: 1 month; Frozen: 6 months 
Reference Interval
Interpretive Data
Background Information for Chronic Granulomatous Disease Panel (CYBB Sequencing and NCF1 Exon 2 GT Deletion):
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. Autosomal recessive for NCF1.
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: Up to 78 percent for CGD
Methodology: Bidirectional sequencing of the CYBB coding region and intron-exon boundaries. Polymerase Chain Reaction/High-Resolution Melt Analysis to assess for the common NCF1 c.75_76delGT variant.
Analytical Sensitivity: 99 percent for CYBB and homozygous NCF1 c.75_76delGT deletion, 90 percent for heterozygous NCF1 c.75_76delGT deletion.
Analytical 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 NCF1 other than c.75_76delGT are not evaluated. Because of potential recombination between NCF1 and its pseudogenes, the lack of detection of the c.75_76delGT variant does not rule out carrier status for autosomal recessive CGD.

Note
Hotline History
View Hotline History
Components
Component Test Code*Component Chart NameLOINC
3000545CGD PAN Specimen31208-2
3000546CGD PAN Interpretation
* 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.
Aliases
  • CGD
  • CGD mutation testing
  • CYBB
  • CYBB X-Linked mutation