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Peutz-Jeghers Syndrome via the STK11 Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
7525 STK11 81405 81405,81404 $540 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7525STK1181405 81404(x1), 81405(x1) $540 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Turnaround Time

18 days on average for standard orders or 13 days on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Hannah Cox, PhD

Clinical Features and Genetics

Clinical Features

Peutz-Jeghers syndrome (PJS; OMIM 175200) is an autosomal dominant disorder characterized by hamartomatous polyps in the gastrointestinal tract and melanin pigmentation around the mouth, eyes, nostrils, buccal mucosa, fingers, toes, and other sites. PJS patients typically present in early childhood with pigmentation or with complications of polyposis, such as intussusception, bowel obstruction, or bleeding. Compared to the general population, patients with PJS have an increased risk of intestinal and various extra-intestinal malignancies, including breast, pancreatic, ovarian, testicular, and cervical cancer; their lifetime risk is ~4 fold higher for gastrointestinal cancer and ~6 fold higher for breast cancer compared to individuals without PJS (Hearle et al. Clin Cancer Res 12:3209-3215, 2006). Approximately 75% of PJS cases are known to be familial while the remainder appears to be sporadic (Lim et al. Br. J Cancer 89:308-313, 2003).

Genetics

Peutz-Jeghers syndrome is caused by heterozygous germline variants in the tumor suppressor gene STK11 (OMIM 602216). STK11, also called LKB1, consists of 9 exons and encodes a serine/threonine kinase that inhibits cellular proliferation by promoting cell-cycle arrest (Tiainen et al. PNAS 96:9248-9251, 1999). Second hit variants in STK11 ultimately lead to unfettered growth and tumorigenesis. To date, ~100 unique variants have been described throughout the STK11 gene (Human Gene Mutation Database, www.hgmd.cf.ac.uk). Most (80%) are truncating variants (i.e. frameshift, nonsense, splice-site, or exonic deletions) that result in early protein termination (Hearle et al. Clin Cancer Res 12:3209-3215, 2006). The remaining variants are missense or in-frame deletions. Large genomic deletions in STK11 have also been described.

Clinical Sensitivity - Sequencing with CNV PG-Select

Approximately 55% of patients with a positive family history or 70% of patients with no family history of Peutz-Jeghers syndrome will have a pathogenic variant detectable by sequencing (Amos et al. GeneReviews. 2011). Approximately 45% of patients with a positive family history or 21% of patients with no family history of Peutz-Jeghers syndrome will have a pathogenic variant detectable by deletion analysis (Amos et al. GeneReviews. 2011).

Testing Strategy

This test provides full coverage of all coding exons of the STK11 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Deletion and duplication testing for STK11 is performed using NGS, but CNVs detected are confirmed via Multiplex Ligation-dependent Probe Amplification (MLPA).

Indications for Test

Candidates for this test are patients with Peutz-Jeghers syndrome. This test is specifically designed for heritable germline variants and is not appropriate for the detection of somatic variants in tumor tissue.

Gene

Official Gene Symbol OMIM ID
STK11 602216
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Peutz-Jeghers Syndrome AD 175200

Related Test

Name
Hereditary Breast and Ovarian Cancer - High Risk and Lynch Syndrome Panel

Citations

  • Amos et al. GeneReviews. 2011
  • Hearle, N., et.al. (2006). "Frequency and spectrum of cancers in the Peutz-Jeghers syndrome." Clin Cancer Res 12(10): 3209-3215. PubMed ID: 16707622
  • Human Gene Mutation Database.
  • Lim W, Hearle N, Shah B, Murday V, Hodgson SV, Lucassen A, Eccles D, Talbot I, Neale K, Lim AG, O’Donohue J, Donaldson A, et al. 2003. Further observations on LKB1/STK11 status and cancer risk in Peutz–Jeghers syndrome. British Journal of Cancer 89: 308–313. PubMed ID: 12865922
  • Tiainen M, Ylikorkala A, Mäkelä TP. 1999. Growth suppression by Lkb1 is mediated by a G1 cell cycle arrest. Proceedings of the National Academy of Sciences 96: 9248–9251. PubMed ID: 10430928

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
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