GTR Test Accession:
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GTR000591328.1
Registered in GTR:
2020-08-12
View version history
GTR000591328.1,
registered in GTR:
2020-08-12
Last annual review date for the lab: 2021-07-16
Past due
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At a Glance
Methods (2):
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Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
Patient with family history
Clinical validity:
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99.99
Clinical utility:
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Establish or confirm diagnosis;
Lifestyle planning;
Predictive risk information for patient and/or family members
Ordering Information
Offered by:
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Test short name:
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Colorectal Cancer
Specimen Source:
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- Buccal swab
- Isolated DNA
- Saliva
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
- Registered Nurse
Test Order Code:
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CDx004
View other test codes
View other test codes
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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Fill test requisition form and submit with saliva or buccal swab specimen
Order URL
Order URL
Test service:
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Full gene sequencing and del/dup analysis
Test development:
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Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required:
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Yes
Pre-test genetic counseling required:
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No
Post-test genetic counseling required:
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No
Recommended fields not provided:
Lab contact for this test,
Test strategy
Conditions
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Total conditions: 6
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 19
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
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
illumina Miniseq
Clinical Information
Test purpose:
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Diagnosis;
Predictive;
Prognostic
Clinical validity:
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99.99
Clinical utility:
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Establish or confirm diagnosis
Lifestyle planning
Predictive risk information for patient and/or family members
Lifestyle planning
Predictive risk information for patient and/or family members
Target population:
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Patient with family history
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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We follow ACMG guidelines for providing classification and interpretation of VUS
We follow ACMG guidelines for providing classification and interpretation of VUS
Will the lab re-contact the ordering physician if variant interpretation changes?
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.
.
Recommended fields not provided:
Are family members with defined clinical status recruited to assess significance of VUS without charge?,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Platform:
None/not applicable
Test Confirmation:
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Positive results are confirmed with Sanger sequencing
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Control samples with over 1000 known variants were used to establish analytical validity. Analytical validity of > 99.99% was achieved.
Assay limitations:
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10 ng of purified DNA
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Inter-Laboratory
Description of internal test validation method: Help
Following CLIA guidelines
Yes
Method used for proficiency testing: Help
Inter-Laboratory
Description of internal test validation method: Help
Following CLIA guidelines
Recommended fields not provided:
Citations to support assay limitations,
Citations to support 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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Category:
FDA exercises enforcement discretion
Additional Information
Suggested reading:
Clinical resources:
Molecular resources:
Practice guidelines:
Consumer resources:
IMPORTANT NOTE:
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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.