GTR Test Accession:
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GTR000527984.1
Registered in GTR:
2015-09-01
View version history
GTR000527984.1,
registered in GTR:
2015-09-01
Last annual review date for the lab: 2024-07-23
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At a Glance
Test purpose:
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Mutation Confirmation;
Pre-symptomatic;
Recurrence; ...
Conditions (10):
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Genes (7):
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Methods (3):
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Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Target population: Help
Colon and Endometrial cancer patients Identification of individuals with increased …
Clinical validity:
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Not provided
Clinical utility:
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Guidance for management
Ordering Information
Offered by:
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Test short name:
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ColoNGS
Specimen Source:
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- Peripheral (whole) blood
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Physician Assistant
- Public Health Mandate
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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No
Pre-test genetic counseling required:
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No
Post-test genetic counseling required:
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No
Recommended fields not provided:
Test Order Code,
Lab contact for this test,
Test strategy,
Test development
Conditions
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Total conditions: 10
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 7
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 3
Method Category
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Test method
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Instrument
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Applied Biosystems 3130 Genetic Analyzer, MRC Holland
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Applied Biosystems 3130 Genetic Analyzer, CE IVD Kit
Targeted variant analysis
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3130 Genetic Analyzer
Clinical Information
Test purpose:
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Mutation Confirmation;
Pre-symptomatic;
Recurrence;
Risk Assessment;
Screening;
Therapeutic management
Clinical utility:
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Guidance for management
Target population:
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Colon and Endometrial cancer patients
Identification of individuals with increased risk of developing colorectal cancer and other extra-intestinal changes such as extra and intra-ventricular desmoid tumors, hepatoblastomas, myeloblasomas, thyroid tumors, brain tumors, hepatic bile ducts tumors, ampulla of vater tumors and tumors of the adrenal (FAP).
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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No.
No.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Yes.
Yes.
Recommended fields not provided:
Clinical validity,
What is the protocol for interpreting a variation as a VUS?,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Platform:
Illumina MiSeq system
Test Confirmation:
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Positive results are confirmed on a new DNA preparation using bidirectional Sanger sequence analysis (for point mutations and small indels) or an alternative probe mix (MRC, Holland) for large genomic rearrangements.
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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yes 100%
Proficiency testing (PT):
Is proficiency testing performed for this test?
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No
No
Recommended fields not provided:
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:
Practice guidelines:
Consumer resources:
IMPORTANT NOTE:
NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading.
NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice.
Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.