GTR Home > Tests > MLH1-Related Lynch Syndrome

Overview

Test name

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MLH1-Related Lynch Syndrome (MLH1)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Screening

Condition

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1condition tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
  • Applied Biosystems 3130XL
XMutation scanning of select exons
High Resolution Melting Analysis (HRMA)
ESequence analysis of select exons
Bi-directional Sanger Sequence Analysis
  • Applied Biosystems 3130XL Genetic Analyzer

Summary of what tested

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

Genes and variants

Clinical validity

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Not provided

Clinical utility

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Not provided

How to order

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Order URL Help: http://www.mdl.dk/diagnostics.htm

Suggested reading

Clinical resources

Practice guidelines

  • SGO, 2014
    Society of Gynecologic Oncology (SGO) Clinical Practice Statement: Screening for Lynch Syndrome in Endometrial Cancer
  • ACMG, 2013
    ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
  • 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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