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Test Code 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 preferred to arrive within 96 hours of collection.



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

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 (preferred) 4 days/Refrigerated


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

Method Name

Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing.

Reporting Name

STK11 Full Gene Analysis

Specimen Type

Varies

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

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.

Day(s) Performed

Varies

Report Available

21 to 28 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test 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