• Test Code:
    5052 (now 1340)1340
  • Department:
    Inherited Cancer Syndromes Molecular Genetics
  • Test Synonyms:
    Lynch SyndromeHNPCCExon-centric deletion/duplication analysis
  • CPT Code(s):
    Contact KDL for billing information

The protein, Postmeiotic Segregation Increased 2 (PMS2), is a component of the mismatch repair genes. PMS2 interacts with the protein MLH1 and assists correcting DNA replication mistakes. Mutations in this gene have been shown to contribute to about 5% of Hereditary Nonpolyposis Colon cancer, as well as pancreatic and ovarian cancers. PMS2 testing is also recommended upon detection of microsatellite instability (MSI) in tumor tissues due to the possibility deficits in the DNA mismatch repair machinery. MLPA or CGH microarray can analyze copy number changes as well. It is recommended that additional family members to be tested upon detection of a pathogenic variant.

Reasons for Referral:

  • Microsatellite instability detection in tumors
  • Lynch syndrome
  • Colon cancer
  • Pancreatic cancer
  • Ovarian cancer
  • Family history
For detailed information and ordering instructions, please refer to Exon-centric deletion/duplication analysis (1340). Genes may be added if clinically indicated. 


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