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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Lynch syndrome


Other Names for this Disease
  • COCA1
  • Colon cancer, familial nonpolyposis
  • Colorectal cancer, hereditary nonpolyposis
  • Familial nonpolyposis colon cancer
  • Hereditary nonpolyposis colorectal cancer
More Names
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Tests & Diagnosis


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How is Lynch syndrome diagnosed?

The diagnosis of Lynch syndrome can be made on the basis of the Amsterdam clinical criteria or on the basis of molecular genetic testing for germline mutations in one of several mismatch repair (MMR) genes.[1] To read detailed diagnostic strategies, click here.
Last updated: 10/23/2012

References
  1. Kohlmann W, Gruber SB. Hereditary Non-Polyposis Colon Cancer. GeneReviews. November 2006; http://www.ncbi.nlm.nih.gov/books/NBK1211/#hnpcc.Diagnosis. Accessed 7/1/2011.


Testing

  • Orphanet lists international laboratories offering diagnostic testing for this condition. Click here and scroll down the page to learn more about the processes of certification, accreditation, and external quality assessment available to these labs. Click on Orphanet to view the list.