Chronic Granulomatous Disease, X-Linked (CYBB) Gene Scanning with Reflex to Sequencing
2006361
Ordering Recommendation
Molecular test to confirm a diagnosis or assess carrier status for X-linked CGD.
Mnemonic
CYBB
Methodology
Polymerase Chain Reaction/High Resolution Melt Analysis
Performed
Mon, Thu
Reported
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
  
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).  
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL)  
Storage/Transport Temperature
Refrigerated.  
Unacceptable Conditions
  
Remarks
  
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable  
Reference Interval
   
Interpretive Data
Background Information for Chronic Granulomatous Disease, X-Linked (CYBB) Gene Scanning:
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 mutations in 10-20 percent of affected males.
Cause:
Pathogenic mutations in the CYBB gene result in X-linked CGD. Autosomal recessive CGD may result from mutations in NCF1 (25 percent), CYBA (<5 percent), NCF2 (<5 percent) and NCF4 (very rare).
Clinical Sensitivity:
68 percent for CGD.
Methodology:
Polymerase Chain Reaction/High Resolution Melt Analysis. Identified sequence variants are confirmed using targeted, bidirectional sequencing.
Analytical Sensitivity and Specificity
: 99 percent.
Limitations
: Diagnostic errors can occur due to rare sequence variations. Deep intronic mutations in CYBB are not detected in males or females. Large CYBB gene deletions/duplications will not be detected in carrier females. Breakpoints of large deletions/duplications will not be determined in males. Mutations in genes other than CYBB are not evaluated.





See Compliance Statement C: www.aruplab.com/CS
Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test; however, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
 
Note
If pathogenic CYBB mutations are detected, then sequencing will be added. Additional charges apply. 
CPT Code(s)
81479; If reflexed to Seq, add: 81479
Components
Component Test Code*Component Chart NameLOINC
2006362CYBB Specimen 
2006363CYBB for Chronic Granulomatous Disease 
2006364CYBB 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 mutation testing
  • CYBB x-linked mutations