GTR Test Accession:
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GTR000591853.2
Last updated in GTR:
2021-05-03
View version history
GTR000591853.2,
last updated:
2021-05-03
GTR000591853.1,
registered in GTR:
2021-04-14
Last annual review date for the lab: 2024-04-03
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At a Glance
Test purpose:
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Risk Assessment
Conditions (25):
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Aplastic anemia;
BAP1-related tumor predisposition syndrome;
Breast and colorectal cancer, susceptibility to
more...
Genes (18):
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Methods (2):
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Molecular Genetics - Mutation scanning of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
Individuals that meet NCCN criteria for Hereditary Prostate Cancer
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Specimen Source:
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- Buccal swab
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
- Registered Nurse
Test Order Code:
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PST
Contact Policy:
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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:
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Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
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:
Lab contact for this test,
Test strategy,
Test development
Conditions
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Total conditions: 25
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 18
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 2
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)
Ion Torrent Platform (Ion sphere particles - Chef System/S5XL
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina MiniSeq
Clinical Information
Test purpose:
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Risk Assessment
Target population:
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Individuals that meet NCCN criteria for Hereditary Prostate Cancer
View citations (2)
- Daly MB, Pal T, Berry MP, Buys SS, Dickson P, Domchek SM, Elkhanany A, Friedman S, Goggins M, Hutton ML, , Karlan BY, Khan S, Klein C, Kohlmann W, , Kurian AW, Laronga C, Litton JK, Mak JS, , Menendez CS, Merajver SD, Norquist BS, Offit K, Pederson HJ, Reiser G, , Senter-Jamieson L, , Shannon KM, Shatsky R, Visvanathan K, Weitzel JN, Wick MJ, Wisinski KB, Yurgelun MB, Darlow SD, Dwyer MA. Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. 2021;19(1):77-102. doi:10.6004/jnccn.2021.0001. Epub 2021 Jan 06. PMID: 33406487.
- ' NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines ®). Prostate cancer early detection. Version 2.2020 - August 24, 2020. NCCN.org '
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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ACMG guidelines.
ACMG guidelines.
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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Yes.
Yes.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Not provided.
Not provided.
Recommended fields not provided:
Clinical validity,
Clinical utility,
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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To establish analytical sensitivity and specificity, reference samples that contain both disease-associated and non-disease associated sequence variations were analyzed. Analytical sensitivity: The likelihood of the assay to detect a sequence variation when present within the analyzed genomic region (the test’s false negative rate) was established. All samples tested that have …
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View citations (3)
- ' https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3827024/pdf/nihms525968.pdf
- https://nam.edu/wp-content/uploads/2015/06/AnalyticValidityPersp.pdf '
- https://nam.edu/wp-content/uploads/2015/06/AnalyticValidityPersp.pdf
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,
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:
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.