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GTR Home > Tests > Hereditary Non-Polyposis Colorectal Cancer (HNPCC) or Lynch Syndrome

Methodology

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

Test development

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Not provided

Confirmation of results

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Positive results are confirmed on a new DNA preparation using bidirectional Sanger sequence analysis (for point mutations and small indels) or an alternative probe mix (MRC, Holland) for large genomic rearrangements.

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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

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