Chronic granulomatous disease, autosomal recessive (CGD)
Clinical Genetic Test
offered by
GTR Test Accession: Help GTR000500275.3
Last updated in GTR: 2015-02-09
Last annual review date for the lab: 2023-06-12 Past due LinkOut
At a Glance
Chronic granulomatous disease
Genes (4): Help
CYBA (16q24.2), NCF1 (7q11.23), NCF2 (1q25.3), NCF4 (22q12.3)
Molecular Genetics - Sequence analysis of the entire coding region: Uni-directional Sanger sequencing
Not provided
Not provided
Establish or confirm diagnosis; Establish or confirm diagnosis; Establish or confirm diagnosis
Ordering Information
Offered by: Help
Department of Clinical Immunology
Test short name: Help
Specimen Source: Help
Who can order: Help
  • Health Care Provider
Test Order Code: Help
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
by email
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
    Comment: specify by order
Confirmation of research findings
    Comment: specify by order
Custom Sequence Analysis
    Comment: specify by order
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Test strategy: Help
sequencing of more genes
View citations (1)
  • Jakobsen MA and Torben Barington: Molecular diagnosis of patients with chronic granulomatous disease. Current Topics in Genetics, 2010, 4: 55-64
Pre-test genetic counseling required: Help
Post-test genetic counseling required: Help
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 4
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 1
Method Category Help
Test method Help
Sequence analysis of the entire coding region
Uni-directional Sanger sequencing
Clinical Information
Test purpose: Help
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
finding will be reported and suggested significance specified

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Recommended fields not provided:
Technical Information
Test Platform:
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help

PT Provider: Help
European Molecular Genetics Quality Network, EMQN
Software used to interpret novel variations Help

Laboratory's policy on reporting novel variations Help
finding will be reported and suggested significance specified
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information

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