Home
HelpTest ID: STK1Z Peutz-Jeghers Syndrome, STK11, Full Gene Analysis, Varies
Ordering Guidance
For a comprehensive hereditary cancer panel that includes the STK11 gene, consider 1 of the following tests:
-CRCGP / Hereditary Gastrointestinal Cancer Panel, Varies
-BRGYP / Hereditary Breast/Gynecologic Cancer Panel, Varies
Testing for the STK11 gene as part of a customized panel is available. For more information see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.
Targeted testing for familial variants (also called site-specific or known mutations testing) is available for the genes on this panel. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.
Shipping Instructions
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. For instructions for testing patients who have received a bone marrow transplant, call 800-533-1710.
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Green top (Sodium heparin)
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient 4 days/Refrigerated 4 days/Frozen 4 days
Additional Information:
1. Specimens are preferred to be received within 4 days of collection. Extraction will be attempted for samples received after 4 days and DNA yield will be evaluated to determine if testing may proceed.
2. To ensure minimum volume and concentration of DNA is met, the preferred volume of blood must be submitted. Testing may be canceled if DNA requirements are inadequate.
Specimen Type: Saliva
Patient Preparation: Patient should not eat, drink, smoke, or chew gum 30 minutes before collection.
Supplies: Saliva Swab Collection Kit (T786)
Specimen Volume: 1 Swab
Collection Instructions: Collect and send specimen per kit instructions.
Specimen Stability Information: Ambient (preferred) 30 days/Refrigerated 30 days
Additional information: Due to lower quantity/quality of DNA yielded from saliva, some aspects of the test may not perform as well as DNA extracted from a whole blood sample. When applicable, specific gene regions that were unable to be interrogated will be noted in the report. Alternatively, additional specimen may be required to complete testing.
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Molecular Genetics: Inherited Cancer Syndromes Patient Information (T519)
3. If not ordering electronically, complete, print, and send a Oncology Test Request (T729) with the specimen.
Useful For
Evaluating patients with a personal or family history suggestive of Peutz-Jeghers syndrome (PJS)
Establishing a diagnosis of PJS allowing for targeted cancer surveillance based on associated risks
Identifying variants within genes known to be associated with increased risk for PJS allowing for predictive testing of at-risk family members
Genetics Test Information
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in the STK11 gene associated with Peutz-Jeghers syndrome (PJS). See Method Description for additional details.
Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for PJS.
Method Name
Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing
Reporting Name
STK11 Full Gene AnalysisSpecimen Type
VariesSpecimen Minimum Volume
Whole Blood 1 mL; Saliva: See Specimen Required
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Clinical Information
Germline variants in the STK11 gene are associated with Peutz-Jeghers syndrome (PJS), an autosomal dominant hereditary cancer syndrome.(1-4) PJS is characterized by many manifestations beginning in childhood, including gastrointestinal hamartomatous polyps, pigmentation changes (called melanocytic macules) around the mouth, eyes, buccal mucosa, perianal area, hands, and feet, and an increased lifetime risk for developing a variety of cancers.(1-4) The highest cancer risks for PJS are in breast, colorectal, gastric, pancreas, lung, gonads, cervix, and uterus.(1-4) Approximately 10% to 20% of individuals with PJS have no family history and are thought to have genetic variants that occurred de novo.(1,5)
The National Comprehensive Cancer Network and the American College of Gastroenterology provide recommendations regarding the medical management of children and adults with PJS.(5,6)
Reference Values
An interpretive report will be provided.
Interpretation
All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(7) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Clinical Reference
1. McGarrity TJ, Amos CI, Baker MJ: Peutz-Jeghers syndrome. In: Adam MP, Everman DB, Mirzaa GM, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2001. Updated September 2, 2021. Accessed Septemberr 9, 2024. Available at www.ncbi.nlm.nih.gov/books/NBK1266/
2. Beggs AD, Latchford AR, Vasen HF, et al. Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut. 2010;59(7):975-986
3. Hearle N, Schumacher V, Menko FH, et al. Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res. 2006;12(10):3209-3215
4. Gupta S, Provenzale D, Llor X, et al. NCCN guidelines insights: genetic/familial high-risk assessment: colorectal, version 2.2019. J Natl Compr Canc Netw. 2019;17(9):1032-1041
5. Hernan I, Roig I, Martin B, Gamundi MJ, Martinez-Gimeno M, Carballo M. De novo germline mutation in the serine-threonine kinase STK11/LKB1 gene associated with Peutz-Jeghers syndrome. Clin Genet. 200466(1):58-62
6. Syngal S, Brand RE, Church JM, et al. ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol. 2015;110(2):223-262
7. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424
Day(s) Performed
Varies
Report Available
21 to 28 daysTest Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81405
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| STK1Z | STK11 Full Gene Analysis | 94216-9 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 614851 | Test Description | 62364-5 |
| 614852 | Specimen | 31208-2 |
| 614853 | Source | 31208-2 |
| 614854 | Result Summary | 50397-9 |
| 614855 | Result | 82939-0 |
| 614856 | Interpretation | 69047-9 |
| 614857 | Resources | 99622-3 |
| 614858 | Additional Information | 48767-8 |
| 614859 | Method | 85069-3 |
| 614860 | Genes Analyzed | 48018-6 |
| 614861 | Disclaimer | 62364-5 |
| 614862 | Released By | 18771-6 |
mcl-moltechtestmenu; mcl-hereditarycancer