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GTR Home > Tests > Lynch Syndrome


Test order codeHelp: CDx006

Test name


Lynch Syndrome (Lynch Syndrome)

Purpose of the test


This is a clinical test intended for Help: Diagnosis, Predictive, Prognostic



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Click Indication tab for more information.

How to order


Fill test requisition form and submit with saliva or buccal swab specimen
Order URL Help: http://claritidiagnostics.com/physicians/our-process/

Specimen source

Buccal swab
Isolated DNA


Molecular Genetics
DDeletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • None/not applicable
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • illumina Miniseq
  • None/not applicable

Summary of what is tested

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Click Methodology tab for more information.

Clinical utility


Establish or confirm diagnosis

Predictive risk information for patient and/or family members

Lifestyle planning

Clinical validity




Not provided

Test services

  • Full gene sequencing and del/dup analysis

Suggested reading

Practice guidelines

  • NCCN, 2023
    NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Colon Cancer, 2023
  • NICE, 2020
    UK NICE Diagnostics Guidance DG42, Testing strategies for Lynch syndrome in people with endometrial cancer, 2020
  • ACMG ACT, 2019
    American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, MLH1, MSH2, MSH6, PMS2, EPCAM Pathogenic Variants, Lynch Syndrome (Hereditary Non-polyposis Colon Cancer [HNPCC]), 2019
  • 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

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