Forms and Documents
- 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.
*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.
**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
- Aretz, S. et al., High Proportion on Large Genomic STK11 Deletions in Peutz-Jeghers Syndrome. Human Mutation 12: 513-519, 2005
- 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
- Mehenni, H. et al. Molecular and clinical characteristics in 46 families affected with Peutz-Jehgers syndrome. Dig Dis Sci. 52:1924-1933, 2007