GTR Home > Tests > MLH1 Sequence Analysis (Familial Mutation/Variant Analysis)

Overview

Test order codeHelp: 6142

Test name

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MLH1 Sequence Analysis (Familial Mutation/Variant Analysis)

Purpose of the test

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

Condition

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1 condition tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
TTargeted variant analysis
Bi-directional Sanger Sequence Analysis

Summary of what is tested

1 genes and variants. Click Methodology tab for more information.

Genes

Clinical validity

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Not provided

Clinical utility

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Not provided

How to order

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For specimen requirements and shipping conditions, please check the test code specific information page. To view the test code specific information page, simply type the test code into the MGL search box found on our home page. Label all specimen tubes with full name and date of birth of the patient. Provide billing information. If we are billing patient insurance, provide a copy of the front and back of the insurance card. For additional information, contact the laboratories at 1-800-411-GENE (4363) or genetictest@bcm.edu.
Order URL Help: https://www.bcm.edu/geneticlabs/index.cfm?PMID=15828

Suggested reading

Practice guidelines

  • ACMG, 2016
    Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
  • Mork et al., 2015
    Lynch Syndrome: A Primer for Urologists and Panel Recommendations.
  • ACG, 2015
    ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
  • ASCO/ESMO, 2015
    Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines.
  • ACMG, 2015
    ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
  • ACMG/NSGC, 2015
    A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.
  • MSTF, 2014
    Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-society Task Force on colorectal cancer.
  • MSTF, 2014
    Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on Colorectal Cancer.
  • ASCO, 2014
    American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.
  • SGO, 2014
    Society of Gynecologic Oncology (SGO) Clinical Practice Statement: Screening for Lynch Syndrome in Endometrial Cancer
  • ACMG, 2014
    ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis).
  • ACMG, 2013
    ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
  • Mallorca group, 2013
    Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts.
  • Dutch SCG, 2013
    Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists.
  • CAPS, 2013
    International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer
  • NSGC/CCA-ICC, 2012
  • ASCO, 2010
    American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.
  • EGAPP, 2009
    Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives
  • Vasen et al., 2007
    Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer)
  • ASCRS, 2001
    Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal cancer--supporting documentation.
  • EuroGenetest, 2010
    Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2)

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.

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