GTR Home > Tests > MLH1 Related Lynch Syndrome


Test order codeHelp: MLH1

Test name


MLH1 Related Lynch Syndrome (MLH1)

Purpose of the test


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



1 condition tested. Click Indication tab for more information.


Molecular Genetics
DDeletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
  • Applied Biosystems 3730 capillary sequencing instrument
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
  • Applied Biosystems 3730 capillary sequencing instrument

Summary of what is tested

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


Clinical validity


Mutations identified in the MLH1 gene are indicative of increased risk of developing Lynch Syndrome

Clinical utility


Avoidance of invasive testing

Establish or confirm diagnosis

Guidance for management

Predictive risk information for patient and/or family members

Reproductive decision-making

Testing strategy


When indicated by immunohistochemistry, or severe family history of Lynch syndrome sequence of the entire coding sequence and MLPA analysis for deletions/duplication are requested

How to order


Test should only be orderd through the LRCP Cancer Genetics clinic as a reflex to immunohistochemistry data indicating MLH1 deficiency
Order URL Help:

Test services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Deletion/Duplication Testing
  • Custom Sequence Analysis
  • Custom mutation-specific/Carrier testing

Suggested reading

Practice guidelines

  • 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.
  • 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
  • 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
  • ASCRS, 2001
    Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal cancer--supporting documentation.

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