GTR Test Accession:
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GTR000553676.3
Last updated in GTR:
2019-07-01
View version history
GTR000553676.3,
last updated:
2019-07-01
GTR000553676.2,
last updated:
2018-09-12
GTR000553676.1,
registered in GTR:
2018-07-05
Last annual review date for the lab: 2023-07-21
Past due
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At a Glance
Test purpose:
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Diagnosis
Conditions (34):
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Breast-ovarian cancer, familial, susceptibility to, 1;
Adrenocortical carcinoma, hereditary;
Basal cell carcinoma, susceptibility to, 7
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Genes (7):
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Methods (2):
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Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
Not provided
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Test Order Code:
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23000
Informed consent required:
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Decline to answer
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
How to Order,
Specimen source,
Lab contact for this test,
Contact policy,
Test strategy,
Test development
Conditions
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Total conditions: 34
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 7
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 2
Method Category
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Test method
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Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis
Recommended fields not provided:
Clinical validity,
Clinical utility,
Target population,
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
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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The sequence (NGS) analytical validity for SNV is >99% sensitivity, >99% specificity, >99% accuracy. The deletion/duplication analytical validity for CNV is higher than 99.9% sensitivity, >99% specificity, >99% accuracy to detect one exon or greater deletions and two exon or greater insertion, LOD standard deviation over 0.12 or coverage < …
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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
Suggested reading:
Clinical resources:
Molecular 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.