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Test ID: STKZ STK11 Gene, Full Gene Analysis, Varies

Useful For

Confirming a diagnosis of Peutz-Jeghers syndrome

Additional Tests

Test ID Reporting Name Available Separately Always Performed
COLAB Hereditary Colon Cancer CGH Array Yes, (order FMTT) Yes

Testing Algorithm

When this test is ordered, comparative genomic hybridization array will always be performed at an additional charge.


See Colonic Polyposis Syndromes Testing Algorithm in Special Instructions.

Method Name

Polymerase Chain Reaction (PCR) Amplification/DNA Sequencing


COLAB: Array comparative genomic hybridization (aCGH)

Reporting Name

STK11 Gene, Full Gene Analysis

Specimen Type


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


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.

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)

Clinical Information

Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder characterized by gastrointestinal (GI) hamartomatous polyps and melanotic macules. The GI polyps are most common in the small intestine. Although typically benign, these polyps can cause chronic bleeding and may result in obstruction and intussusception. Pigment changes, typically dark blue spots around the lips, buccal mucosa, and fingers, appear in childhood. Affected individuals are also at an increased risk for a variety of malignancies including colorectal, gastric, breast, thyroid, pancreatic, uterine, and sertoli cell and sex cord tumors. PJS is caused by variants in the STK11 (formerly LKB1) gene.

Reference Values

An interpretive report will be provided.


All detected alterations will be evaluated according to American College of Medical Genetics and Genomics (ACMG) recommendations.(1) Variants will be classified based on known, predicted, or possible pathogenicity, and reported with interpretive comments detailing their potential or known significance.

Clinical Reference

1. 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 May;17(5):405-424

2. McGarrity TJ, Amos CI, Baker MJ: Peutz-Jeghers syndrome In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews (Internet). University of Washington, Seattle; 2001. Updated July 14, 2016. Accessed August 12, 2020. Available at

3. Beggs AD, Latchford AR, Vasen HF, et al: Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut. 2010 Jul;59(7):975-986

4. Hearle N, Schumacher V, Menko FH, et al: Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res. 2006 May 15;12(10):3209-3215

Day(s) Performed

Performed weekly

Report Available

14 to 20 days

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



Hereditary Colon Cancer CGH Array, additional test


LOINC Code Information

Test ID Test Order Name Order LOINC Value
STKZ STK11 Gene, Full Gene Analysis 94216-9


Result ID Test Result Name Result LOINC Value
52536 Result Summary 50397-9
52537 Result 82939-0
52538 Interpretation 69047-9
52539 Additional Information 48767-8
52540 Specimen 31208-2
52541 Source 31208-2
52542 Array Billed? No LOINC Needed
52543 Released By 18771-6


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

Mayo Clinic Laboratories | Genetics and Pharmacogenomics Catalog Additional Information: