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GTR Home > Tests > Hereditary Colon and Endometrial Cancer-ColoNGS

Overview

Test name

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Hereditary Colon and Endometrial Cancer-ColoNGS (ColoNGS)

Purpose of the test

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This is a clinical test intended for Help: Pre-symptomatic, Recurrence, Mutation Confirmation, Risk Assessment, Screening, Therapeutic management

Condition

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How to order

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Order URL Help: http://www.genekor.com/hereditary-colon-endometrial-cancer-colongs-p-213.html

Specimen source

Peripheral (whole) blood

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
  • Applied Biosystems 3130 Genetic Analyzer, MRC Holland
  • Illumina MiSeq system
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Applied Biosystems 3130 Genetic Analyzer, CE IVD Kit
  • Illumina MiSeq system
TTargeted variant analysis
Bi-directional Sanger Sequence Analysis
  • Applied Biosystems 3130 Genetic Analyzer
  • Illumina MiSeq system

Summary of what is tested

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Clinical utility

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Guidance for management

Clinical validity

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Not provided

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously

Suggested reading

Practice guidelines

  • NCCN, 2023
    NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Colon Cancer, 2023
  • NICE, 2021
    UK NICE Guideline NG151, Colorectal cancer, 2021
  • NICE, 2020
    UK NICE Diagnostics Guidance DG42, Testing strategies for Lynch syndrome in people with endometrial cancer, 2020
  • SGO, 2014
    Society of Gynecologic Oncology (SGO) Clinical Practice Statement: Screening for Lynch Syndrome in Endometrial Cancer
  • ACMG ACT, 2012
    American College of Medical Genetics and Genomics Family History ACT Sheet, Colon Cancer (Asymptomatic), 2012

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the 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.