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Test 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 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 this gene. For more information see FMTT / Familial Mutation, Targeted Testing, Varies.



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 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 in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Molecular Genetics: Inherited Cancer Syndromes Patient Information (T519) in Special Instructions

3. If not ordering electronically, complete, print, and send a Oncology Test Request (T729) with the specimen.

 

Useful For

Evaluation for 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 1 gene associated with Peutz-Jeghers syndrome (PJS): STK11. See Method Description for additional details.

 

Identification of a pathogenic 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 Analysis

Specimen Type

Varies

Specimen Minimum Volume

See Specimen Required

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reference Values

An interpretive report will be provided.

Day(s) Performed

Varies

Report Available

3 to 4 weeks

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. This test 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

NY State Approved

Yes