Chronic Granulomatous Disease, X-Linked (CYBB) Gene Scanning with Reflex to Sequencing
2006361
 
Ordering Recommendation
Mnemonic
CYBB
Methodology
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.
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:
PCR followed by high-resolution melting analysis of the entire coding region and intron/exon boundaries of the CYBB gene. 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.



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

See Compliance Statement C: www.aruplab.com/CS
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 Name
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, contact interface support at interface.support@aruplab.com.
Cross References