GTR Test Accession:
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GTR000596791.1
Last updated in GTR: 2021-11-12
View version history
GTR000596791.1, last updated: 2021-11-12
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 (9):
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Lynch syndrome; Colorectal cancer, hereditary nonpolyposis, type 2; Endometrial carcinoma; ...
Genes (5):
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EPCAM (2p21), MLH1 (3p22.2), MSH2 (2p21-16.3), MSH6 (2p16.3), PMS2 (7p22.1)
Methods (1):
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Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Individuals that meet NCCN criteria for Lynch Syndrome
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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CGL
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.
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,
Test strategy,
Test development
Conditions
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Total conditions: 9
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 5
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
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 Lynch Syndrome
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
Test Platform:
None/not applicable
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://0-www-ncbi-nlm-nih-gov.brum.beds.ac.uk/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
Suggested reading:
Clinical 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.