GTR Test Accession:
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GTR000557800.4
Last updated in GTR: 2018-09-20
View version history
GTR000557800.4, last updated: 2018-09-20
GTR000557800.3, last updated: 2018-09-12
GTR000557800.2, last updated: 2017-10-16
GTR000557800.1, last updated: 2017-09-15
Last annual review date for the lab: 2023-09-11
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At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-symptomatic
Conditions (5):
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Colorectal cancer, hereditary nonpolyposis, type 2; Colorectal cancer, hereditary nonpolyposis, type 7; Lynch syndrome 1; ...
Genes (6):
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MLH1 (3p22.2), MLH3 (14q24.3), MSH2 (2p21-16.3), MSH6 (2p16.3), PMS1 (2q32.2), ...
Methods (4):
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Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Target population: Help
Not provided
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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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:
Test Order Code,
How to Order,
Specimen source,
Lab contact for this test,
Contact policy,
Test strategy,
Test development
Conditions
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Total conditions: 5
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 6
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 4
Method Category
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Test method
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Instrument *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Methylation analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Microsatellite instability testing (MSI)
Trinucleotide repeat by PCR or Southern Blot
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-symptomatic
Recommended fields not provided:
Clinical validity,
Clinical utility,
Target population,
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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Analytical sensitivity for this assay is estimated to be >99%.
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:
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Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.