Chronic granulomatous disease, autosomal recessive (CGD)
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000500275.3
HEMATOLOGYINHERITED DISEASEIMMUNOLOGY ... View more
Last updated in GTR: 2015-02-09
Last annual review date for the lab: 2023-06-12 Past due LinkOut
At a Glance
Diagnosis
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
CGD
Specimen Source: Help
Who can order: Help
  • Health Care Provider
Test Order Code: Help
CGD
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
Yes
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
Yes
Post-test genetic counseling required: Help
Yes
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
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Sequence analysis of the entire coding region
Uni-directional Sanger sequencing
ABI3130XL
Clinical Information
Test purpose: Help
Diagnosis
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
Yes.
Recommended fields not provided:
Technical Information
Test Platform:
ABI3130XL
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
90-100
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Inter-Laboratory

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

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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