Chronic Granulomatous Disease (CYBB Gene Scanning and NCF1 Exon 2 GT Deletion) with Reflex to CYBB Sequencing
Ordering Recommendation

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

Polymerase Chain Reaction/High Resolution Melt Analysis
Mon, Thu
10-14 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Specimen Required
Patient Preparation
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Unacceptable Conditions
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
Interpretive Data
Background Information for Chronic Granulomatous Disease (CYBB Gene Scanning 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.
Approximately 1 in 250,000 births.
X-linked recessive for CYBB; de novo mutations in 10-20 percent of affected males. Autosomal recessive for NCF1.
Pathogenic mutations in the CYBB gene result in X-linked CGD that accounts for 60-70 percent of all CGD. Autosomal recessive CGD may result from mutations in NCF1 (25 percent), CYBA (<5 percent), NCF2 (<5 percent) and NCF4 (very rare).
Clinical Sensitivity:
86 percent for CGD.
Polymerase Chain Reaction/High-Resolution Melt Analysis. Identified CYBB sequence variants are confirmed using targeted, bidirectional sequencing.
Analytical Sensitivity:
99 percent for CYBB and homozygous GT deletion, 90 percent for heterozygous GT deletion.
Analytical Specificity:
99 percent.
Diagnostic errors can occur due to rare sequence variations. Deep intronic mutations in CYBB, mutations in NCF1 other than the GT deletion in exon 2, and mutations in additional genes associated with CGD, are not evaluated in males or females. Large CYBB gene deletions/duplications will not be detected in females. Breakpoints of large deletions/duplications will not be determined in males. Because of potential recombination between NCF1 and its pseudogenes, the lack of detection of the GT deletion in exon 2 does not rule out carrier status for autosomal recessive CGD.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online at

Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

If pathogenic CYBB mutations are detected, then sequencing will be added. Additional charges apply.
Hotline History
CPT Code(s)
Component Test Code*Component Chart NameLOINC
2006357Chronic Granulomatous Disease, Specimen31208-2
2006358Chronic Granulomatous Disease48728-0
2006359Chronic Granulomatous Disease, Interpret50398-7
* 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 mutation testing
  • CYBB x-linked mutations