MSH2 single gene test

PLUSbpg-method

Test code: S01203

Phenotype information

  • Muir-Torre syndrome
  • Endometrial cancer
  • Colorectal cancer, hereditary nonpolyposis,
  • Mismatch repair cancer syndrome

Alternative gene name

HNPCC, HNPCC1

Panels that include the gene

Gene Genomic location HG19 HGVS RefSeq RS-number Comment Reference
MSH2 Chr2:47630251 c.-78_-77delTG NM_000251.2 rs587779182
MSH2 Chr2:47635062 c.212-478T>G NM_000251.2 rs587779138

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For pricing inquiries, please contact (support@blueprintgenetics.com) or call the sales support team +358 40 2511 372.

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Accepted sample types

  • EDTA blood, min. 1 ml
  • Purified DNA, min. 5μg
  • Saliva (Oragene DNA OG-500 kit)

Label the sample tube with your patient’s name, date of birth and the date of sample collection.

Note that we do not accept DNA samples isolated from formalin-fixed paraffin-embedded (FFPE) tissue.

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