STK11 Gene Sequencing & Del/Dup

Forms and Documents

Test Details

  • An individual with two or more of the following features: 1. Two or more Peutz-Jeghers-type hamartomatous polyps of the small intestine. 2. Mucocutaneous hyperpigmentation of the mouth, lips, nose, eyes, genitalia, or fingers v. 3. Family history of PJS
  • An unaffected individual with a family history suggestive of PJS (see above) when an affected individual is unavailable for his or her own genetic testing.
  • Capillary Sequencing
  • MLPA


3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse


81404x1, 81405x1
* For price inquiries please email


  1. Aretz, S. et al., High Proportion on Large Genomic STK11 Deletions in Peutz-Jeghers Syndrome. Human Mutation 12: 513-519, 2005
  2. Chow, E. et al. An updated mutation spectrum in an Australian series of PJS patients provides further evidence for only one gene locus. Clin Genet. 70:409-414, 2006
  3. Mehenni, H. et al. Molecular and clinical characteristics in 46 families affected with Peutz-Jehgers syndrome. Dig Dis Sci. 52:1924-1933, 2007