Classic view of this page
Hereditary Colon and Endometrial Cancer-ColoNGS
Clinical Genetic Test
Help
offered by
GeneKor MSA
View lab's test page
LinkOut
GTR Test Accession: Help GTR000527984.1
INHERITED DISEASECANCERINHERITED DISEASE SUSCEPTIBILITY ... View more
Last updated in GTR: 2015-09-01
View version history
Last annual review date for the lab: 2023-07-21 LinkOut
At a Glance
Test purpose: Help
Mutation Confirmation; Pre-symptomatic; Recurrence; ...
Conditions (10): Help
Lynch syndrome; Attenuated familial adenomatous polyposis; Endometrial carcinoma; ...
Genes (7): Help
APC (5q22.2), EPCAM (2p21), MLH1 (3p22.2), MSH2 (2p21-16.3), MSH6 (2p16.3), ...
Methods (3): Help
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: Help
Not provided
Clinical utility: Help
Guidance for management
Ordering Information
Offered by: Help
GeneKor MSA
View lab's website
View lab's test page
Test short name: Help
ColoNGS
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Physician Assistant
  • Public Health Mandate
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
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Informed consent required: Help
No
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Test Order Code, Lab contact for this test, Test strategy, Test development
Conditions Help
Total conditions: 10
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 7
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 3
Method Category Help
Test method Help
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: Help
Mutation Confirmation; Pre-symptomatic; Recurrence; Risk Assessment; Screening; Therapeutic management
Clinical utility: Help
Guidance for management
View citations (1)

Target population: Help
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? Help
No.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
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: Help
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: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
yes 100%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
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: 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.