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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessPeutz-Jeghers syndrome


Short information

Guideline-curated single gene sequence analysis according to the clinical suspicion Peutz-Jeghers Syndrom

Number of genes
1 Accredited laboratory test
Examined sequence length
1,4 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications



Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity

Informations about the disease

Clinical Comment

Peutz-Jeghers syndrome is characterized by hamartomatous polyps in the gastrointestinal tract (especially in the stomach and intestines) and by increased risks for developing certain cancers. Children with Peutz-Jeghers syndrome often develop small, dark-colored spots on the lips and mouth, near the eyes/nostrils, perianally as well as on the hands and feet. Most patients with Peutz-Jeghers syndrome have multiple polyps in the stomach and intestines already during childhood or adolescence. Cancers of the intestinal tract, pancreas, cervix, ovaries and breast are not uncommon. Almost all Peutz-Jeghers cases are caused by mutations in the tumor suppressor gene STK11. Half of these cases are inherited in an autosomal dominant manner, and the other half are caused by de novo mutations. A negative molecular genetic result does not completely exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1266/


  • Alias: Hamartomatous intestinal polyposis
  • Alias: Polyposis, hamartomatous intestinal
  • Alias: Polyps-and-spots syndrome
  • Allelic: Melanoma, malignant
  • Allelic: Pancreatic cancer, somatic
  • Allelic: Testicular tumor, somatic
Heredity, heredity patterns etc.
  • AD
ICD10 Code

Bioinformatics and clinical interpretation

No text defined