GTR Test Accession:
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GTR000591263.1
Last updated in GTR: 2020-07-28
View version history
GTR000591263.1, last updated: 2020-07-28
Last annual review date for the lab: 2023-06-14
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At a Glance
Test purpose:
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Diagnosis;
Predictive;
Prognostic; ...
Conditions (1):
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Lynch syndrome
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: PCR
Target population: Help
patients who have a family history of colon cancer and …
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 short name:
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LYNCH
Specimen Source:
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- Peripheral (whole) blood
- Saliva
- View specimen requirements
Who can order: Help
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
Test Order Code:
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LYNCH
CPT codes:
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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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contact gopath labs to review ordering instructions and coordination for genetic counseling
contact vengelmann@gopathlabs.com for LYNCH testing and coordinate genetic counseling
Order URL
contact vengelmann@gopathlabs.com for LYNCH testing and coordinate genetic counseling
Order URL
Test service:
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Custom Deletion/Duplication Testing
Comment: LYNCHnow
Comment: LYNCHnow
Informed consent required:
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Yes
Pre-test genetic counseling required:
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Yes
Post-test genetic counseling required:
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No
Recommended fields not provided:
Lab contact for this test,
Test strategy,
Test development
Conditions
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Total conditions: 1
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
PCR
Illumina Miseq NGS sequencer
Clinical Information
Test purpose:
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Diagnosis;
Predictive;
Prognostic;
Risk Assessment;
Screening;
Therapeutic management
Target population:
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patients who have a family history of colon cancer and patients with colon cancer who could benefit from treatment based on if they have a pathogenic mutation
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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Interpretation and classification of clinical significance of the detected variant are based on catalogued information from the NCBI ClinVar database (http://0-www-ncbi-nlm-nih-gov.brum.beds.ac.uk/clinvar/variation/), LOVD database (http://databases.lovd.nl/ shared/genes/) and other locus specific databases as well as information from published literatures
Interpretation and classification of clinical significance of the detected variant are based on catalogued information from the NCBI ClinVar database (http://0-www-ncbi-nlm-nih-gov.brum.beds.ac.uk/clinvar/variation/), LOVD database (http://databases.lovd.nl/ shared/genes/) and other locus specific databases as well as information from published literatures
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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Yes. our GeneticsNow service covers it all - please use our website www.gopathlabs.com
Yes. our GeneticsNow service covers it all - please use our website www.gopathlabs.com
Recommended fields not provided:
Clinical validity,
Clinical utility,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Platform:
NextGene
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Sensitivity 100%
PPV 100%
NPV 100%
LOD 10%
Accuracy 100%
Precision 6.8%
Proficiency testing (PT):
Is proficiency testing performed for this test?
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No
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
CAP
No
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
CAP
VUS:
Software used to interpret novel variations
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NextGENe
Laboratory's policy on reporting novel variations Help
formal reports
NextGENe
Laboratory's policy on reporting novel variations Help
formal reports
Recommended fields not provided:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
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.