Colon Cancer Profile
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000591184.1
CANCERINHERITED DISEASEDIGESTIVE SYSTEM ... View more
Last updated in GTR: 2020-07-06
Last annual review date for the lab: 2023-06-14 Past due LinkOut
At a Glance
Mutation Confirmation; Prognostic; Therapeutic management
Colorectal cancer
Genes (4): Help
BRAF (7q34), KRAS (12p12.1), NRAS (1p13.2), PIK3CA (3q26.32)
Molecular Genetics - Deletion/duplication analysis: PCR
This panel benefits patients diagnosed with colorectal cancer and are …
Not provided
Not provided
Ordering Information
Offered by: Help
Test short name: Help
COLON48
Specimen Source: Help
Who can order: Help
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
Colon Profile
CPT codes: Help
**AMA CPT codes notice
Contact Policy: Help
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: Help
81210, 81275, 81311, 81404

select Colon Profile on our molecular requisition and mark sample time with ordering facility and physician. please contact our client services to coordinate shipping.
Order URL
Test service: Help
molecular genomic testing
    Comment: KRAS, BRAF, NRAS, PIK3CA gene sequencing via PCR method
Informed consent required: Help
No
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 4
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Deletion/duplication analysis
PCR
ABI9700 GeneAmp PCR system
Clinical Information
Test purpose: Help
Mutation Confirmation; Prognostic; Therapeutic management
Target population: Help
This panel benefits patients diagnosed with colorectal cancer and are looking for certain drug treatment options
View citations (3)
  • Di Nicolantonio F, Martini M, Molinari F, Sartore-Bianchi A, Arena S, Saletti P, De Dosso S, Mazzucchelli L, Frattini M, Siena S, Bardelli A. Wild-type BRAF is required for response to panitumumab or cetuximab in metastatic colorectal cancer. J Clin Oncol. 2008;26(35):5705-12. doi:10.1200/JCO.2008.18.0786. Epub 2008 Nov 10. PMID: 19001320.
  • NRAS mutations are rare in colorectal cancer. Irahara N, et al. Diagn Mol Pathol. 2010;19(3):157-63. doi:10.1097/PDM.0b013e3181c93fd1. PMID: 20736745.
  • Cathomas G. PIK3CA in Colorectal Cancer. Front Oncol. 2014;4:35. doi:10.3389/fonc.2014.00035. Epub 2014 Mar 03. PMID: 24624362.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Interpretation and classification of clinical significance of the detected variant are based on catalogued information from the NCBI ClinVar database (http://www.ncbi.nlm.nih.gov/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? Help
Yes.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Technical Information
Test Platform:
ABI 3130 XL Genetic Analyzer
Test Confirmation: Help
confirmation testing completed using Sanger Sequencing
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
KRAS: The assay identified 23 mutations from all 56 FFPE specimens and give 100% sensitivity and 98% specificity of the assay. Sensitivity=TP/(TP+FN)x100=23/(23+0)x100=100% Specificity=TN/(TN+FP)x100=33/(33+0)x100=98% One specimen DNA with known KRAS mutation was mixed with KRAS wild type in concentration ranging from 100% to 0% (50/50%, 30/70%, 25/75% and 20/80%). The FFPE … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
CAP
VUS:
Software used to interpret novel variations Help
NextGENe

Laboratory's policy on reporting novel variations Help
formal reports
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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.