GTR Test Accession:
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GTR000531737.3
Last updated in GTR: 2023-07-21
View version history
GTR000531737.3, last updated: 2023-07-21
GTR000531737.2, last updated: 2022-07-26
GTR000531737.1, last updated: 2018-08-06
Last annual review date for the lab: 2023-07-26
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At a Glance
Test purpose:
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Diagnosis;
Pre-symptomatic;
Risk Assessment
Conditions (18):
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Hereditary breast ovarian cancer syndrome; Breast-ovarian cancer, familial, susceptibility to, 3; Breast-ovarian cancer, familial, susceptibility to, 4; ...
Genes (27):
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ABRAXAS1 (4q21.23), APC (5q22.2), ATM (11q22.3), BARD1 (2q35), BMPR1A (10q23.2), ...
Methods (3):
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Molecular Genetics - Deletion/duplication analysis: Microarray; Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Target population: Help
Indviduals with family history of cancer where specific syndrome is …
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Test Order Code:
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481220
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,
Lab contact for this test,
Contact policy,
Test strategy,
Test development
Conditions
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Total conditions: 18
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 27
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 3
Method Category
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Test method
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Instrument *
Deletion/duplication analysis
Microarray
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
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;
Pre-symptomatic;
Risk Assessment
Target population:
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Indviduals with family history of cancer where specific syndrome is unclear
Recommended fields not provided:
Clinical validity,
Clinical utility,
What is the protocol for interpreting a variation as a VUS?,
Are family members with defined clinical status recruited to assess significance of VUS without charge?,
Will the lab re-contact the ordering physician if variant interpretation changes?,
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 sensitivity of NGS/MPS is over 99% for the detection of single nucleotide variants, and over 85% for small/large deletions and insertions in the regions analyzed, the sensitivity of MLPA analysis is over 95% for the detection of deletions and duplications of complete exons in the regions analyzed, and the …
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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:
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Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.