Chronic Granulomatous Disease (NCF1) Exon 2 GT Deletion
Ordering Recommendation

Tests for a common NCF1 mutation associated with autosomal recessive chronic granulomatous disease.

Polymerase Chain Reaction/High Resolution Melt Analysis
Mon, Thu
7-10 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 (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.
Autosomal recessive.
Autosomal recessive CGD may result from mutations in NCF1 (25 percent), CYBA (<5 percent), NCF2 (<5 percent) and NCF4 (very rare). Pathogenic mutations in the CYBB gene result in X-linked CGD that accounts for 60-70 percent of all CGD.
Clinical Sensitivity:
18 percent for CGD.
Polymerase Chain Reaction/High Resolution Melt Analysis
Analytical Sensitivity
: 99 percent for homozygous GT deletion, 90 percent for heterozygous GT deletion.
Analytical Specificity
: 99 percent.
: Mutations other than the NCF1 exon 2 GT deletion are not evaluated. Diagnostic errors can occur due to rare sequence variations. 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.

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.

Hotline History
Component Test Code*Component Chart NameLOINC
2006367NCF1 Specimen
2006368NCF1 for Chronic Granalomatous Disease
2006369NCF1 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.
  • CYBB x-linked Exon 2 deletion