GTR Test Accession:
Help
GTR000561702.1
Last updated in GTR: 2018-09-11
View version history
GTR000561702.1, last updated: 2018-09-11
Last annual review date for the lab: 2023-07-07
LinkOut
At a Glance
Test purpose:
Help
Screening
Conditions (1):
Help
Colorectal cancer
Genes (52):
Help
AKT1 (14q32.33), APC (5q22.2), ATM (11q22.3), AXIN1 (16p13.3), AXIN2 (17q24.1), ...
Methods (1):
Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Colorectal Cancers are cancers that begin in the large intestine …
Clinical validity:
Help
Not provided
Clinical utility:
Help
Not provided
Ordering Information
Offered by:
Help
Test Order Code:
Help
81455
Contact Policy:
Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Informed consent required:
Help
Decline to answer
Pre-test genetic counseling required:
Help
Decline to answer
Post-test genetic counseling required:
Help
Decline to answer
Recommended fields not provided:
How to Order,
Specimen source,
Lab contact for this test,
Test strategy,
Test development
Conditions
Help
Total conditions: 1
Condition/Phenotype | Identifier |
---|
Test Targets
Genes
Help
Total genes: 52
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
---|
Methodology
Total methods: 1
Method Category
Help
Test method
Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
Help
Screening
Target population:
Help
Colorectal Cancers are cancers that begin in the large intestine or rectum. Research has identified numerous germline and somatic mutations in 48 genes that are linked to cancers of the colon and rectum. Next Generation Sequencing (NGS) makes it possible to test the entire exonic regions of all 48 genes. …
View more
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
Availability:
Help
Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
Help
The limit of detection is 3.5% allele frequency at 500X coverage and 5% allele frequency at 200X coverage. This technology cannot reliably detect mutations at coverage below 200X. Confirmation of actionable mutations should be performed by Sanger sequencing.
Proficiency testing (PT):
Is proficiency testing performed for this test?
Help
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:
Help
Not provided
Additional Information
Suggested reading:
Clinical resources:
Molecular 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.