GTR Test Accession:
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GTR000607979.1
CAP
Registered in GTR:
2023-08-15
View version history
GTR000607979.1,
registered in GTR:
2023-08-15
Last annual review date for the lab: 2024-07-05
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At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation;
Risk Assessment; ...
Conditions (37):
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Genes (33):
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Methods (1):
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Molecular Genetics - Mutation scanning of select exons: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
The GDI Inherited Cancer Sequencing Panels are recommended for patients …
Clinical validity:
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Not provided
Clinical utility:
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Predictive risk information for patient and/or family members
Ordering Information
Offered by:
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Specimen Source:
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- Buccal swab
- Peripheral (whole) blood
Who can order: Help
- Health Care Provider
- Nurse Practitioner
Test Order Code:
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NGSBNG
Informed consent required:
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Yes
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: 37
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 33
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Mutation scanning of select exons
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation;
Risk Assessment;
Screening
Clinical utility:
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Predictive risk information for patient and/or family members
View citations (1)
- LaDuca H, Polley EC, Yussuf A, Hoang L, Gutierrez S, Hart SN, Yadav S, Hu C, Na J, Goldgar DE, Fulk K, Smith LP, Horton C, Profato J, Pesaran T, Gau CL, Pronold M, Davis BT, Chao EC, Couch FJ, Dolinsky JS. A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients. Genet Med. 2020;22(2):407-415. doi:10.1038/s41436-019-0633-8. Epub 2019 Aug 13. PMID: 31406321.
Target population:
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The GDI Inherited Cancer Sequencing Panels are recommended for patients with a personal or family history of cancer or have a family member that has been positively screened for a variant implicated in cancer in a gene that is covered by this panel.
Recommended fields not provided:
Clinical validity,
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 GDI Inherited Cancer Sequencing Breast and Gynecological Cancer Panel sequences 33 genes and was validated with a sensitivity and specificity of 100% and 100%, respectively.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
College of American Pathologists, CAP
CAP Testing Information (legacy) Help
CAP/ACMG BRCA1/2 Sequencing; BRCA1/2 sequencing; BRCA
Next-Generation Sequencing-Germline; Next-generation sequencing; NGS
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
College of American Pathologists, CAP
CAP Testing Information (legacy) Help
CAP/ACMG BRCA1/2 Sequencing; BRCA1/2 sequencing; BRCA
Next-Generation Sequencing-Germline; Next-generation sequencing; NGS
Recommended fields not provided:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
Description of PT method
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.