GTR Test Accession:
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GTR000604606.1
Registered in GTR:
2023-04-25
View version history
GTR000604606.1,
registered in GTR:
2023-04-25
Last annual review date for the lab: 2024-07-01
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At a Glance
Methods (1):
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Molecular Genetics - Mutation scanning of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Patients with rare disease condition
Clinical validity:
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This panel should be performed in all individuals suspected of …
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Test short name:
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NBN Gene Nijmegen breakage syndrome NGS Genetic DNA Test
Manufacturer's name:
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NBN Gene Nijmegen breakage syndrome NGS Genetic DNA Test
Specimen Source:
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- Peripheral (whole) blood
- View specimen requirements
Lab contact:
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How to Order:
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Just place order online with doctor prescription
Order URL
Order URL
Test development:
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FDA-reviewed (has FDA test name)
Informed consent required:
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Yes
Pre-test genetic counseling required:
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Yes
Post-test genetic counseling required:
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Yes
Recommended fields not provided:
Test Order Code,
Contact policy,
Test strategy
Conditions
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Total conditions: 1
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 1
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 1
Method Category
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Test method
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Instrument
Mutation scanning of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina HiSeq™2000 system
Clinical Information
Test purpose:
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Screening
Clinical validity:
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This panel should be performed in all individuals suspected of having an overlapping clinical phenotype. Confirmation of a clinical diagnosis through genetic testing can allow for genetic counseling and may direct medical management. Genetic counseling can provide a patient and/or family with the natural history of the condition, identify at-risk …
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Target population:
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Patients with rare disease condition
Recommended fields not provided:
Clinical utility,
What is the protocol for interpreting a variation as a VUS?,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Procedure:
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Human Whole Exome Sequencing
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Accuracy and specificity>99%
Proficiency testing (PT):
Is proficiency testing performed for this test?
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No
No
Recommended fields not provided:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
PT Provider,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Not provided
Additional Information
Reviews:
Clinical resources:
Practice guidelines:
Consumer resources:
IMPORTANT NOTE:
NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading.
NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice.
Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.