• Test code: 01706
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)
  • Alternate specimens:
    Saliva, assisted saliva, buccal swab and gDNA
  • Sample requirements
  • Request a sample kit

Invitae Peutz-Jeghers Syndrome Test

Test description

This test analyzes the STK11 gene, which is associated with Peutz-Jeghers syndrome (PJS). PJS is a cancer predisposition syndrome characterized by mucocutaneous pigmentation, numerous precancerous polyps in the gastrointestinal tract, and an increased risk of developing a variety of cancers.

Genetic testing of this gene may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant would also guide testing and diagnosis of at-risk relatives. This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations in tumor tissue.

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Primary panel (1 gene)

Alternative tests to consider

Peutz-Jeghers syndrome can also be ordered as part of a broader panel to test for different types of hereditary cancer, including breast and ovarian, colon, and pancreatic cancers. Depending on the individual’s clinical and family history, one of these broader panels may be appropriate. Any of these broader panels can be ordered for no additional charge.

  • Peutz-Jeghers syndrome (PJS)

Peutz-Jeghers syndrome (PJS) is a cancer predisposition syndrome characterized by the development of numerous precancerous polyps in the gastrointestinal tract and an increased risk of developing a wide variety of cancers, including colorectal, pancreatic, stomach, small bowel, and lung. Women with PJS also have increased lifetime risk of breast, ovarian, cervical, and uterine cancers. PJS is characterized by hyperpigmentation of the mucous membranes, which causes freckling around the mouth, eyes, nose, and perianal area. Hyperpigmentation is also common on the fingers.

Essentially everyone with a pathogenic STK11 variant will manifest symptoms of PJS. PJS is also highly variable, meaning individuals with the same condition may present differently, even among family members. Because we cannot predict which cancers may develop, additional medical management strategies focused on cancer prevention and early detection may benefit most patients who are found to have a pathogenic variant.

Cancer typeLifetime risk
Breast 45%-50%
Colorectal 39%
Gastric 29%
Ovarian 18%-21%
Pancreatic 11%-36%
Lung 15%-17%
Duodenal 13%
Cervical (adenoma malignum) 10%
Uterine 9%

Approximately 80%-94% of individuals with a clinical diagnosis of PJS have an identifiable pathogenic variant in the STK11 gene.

PJS is inherited in an autosomal dominant pattern. Approximately 45% of affected individuals have no family history of PJS, but the proportion of cases due to spontaneous de novo mutations is unclear.

The prevalence of PJS is estimated to be 1 in 50,000 to 1 in 200,000 individuals.

Analysis of the STK11 gene may be considered in individuals with the following features:

  • two or more histologically confirmed PJS-type hamartomatous polyps
  • any number of PJS-type polyps detected in one individual who has a family history of PJS in one or more close relatives
  • characteristic mucocutaneous pigmentation in an individual who has a family history of PJS in one or more close relatives
  • any number of PJS-type polyps in an individual who also has characteristic mucocutaneous pigmentation

Clinical diagnostic criteria for PJS have also been proposed:

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below, depending on the specific gene or test. In addition, the analysis covers select non-coding variants. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
STK11 NM_000455.4