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Test ID: STKZ STK11 Gene, Full Gene Analysis

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

Reporting Name

STK11 Gene, Full Gene Analysis

Specimen Type

Varies


Shipping Instructions


Specimen preferred to arrive within 96 hours of draw.



Specimen Required


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.


Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

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 mutations in the STK11 (formerly LKB1) gene.

Reference Values

An interpretive report will be provided.

Interpretation

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. Amos CI, Frazier ML, Wei C, McGarrity TJ: Peutz-Jeghers Syndrome. In GeneReviews. Edited by RA Pagon, TD Bird, CR Dolan, et al. University of Washington, Seattle, Updated 2011 Feb 22

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) and Time(s) Performed

Performed weekly, Varies

Analytic Time

14 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 U.S. Food and Drug Administration.

CPT Code Information

81405-STK11 (serine/threonine kinase 11) (eg, Peutz-Jeghers syndrome), full gene sequence

 

Hereditary Colon Cancer CGH Array

81228-Cytogenomic constitutional (genome-wide) microarray analysis; interrogation of genomic regions for copy number variants (eg, Bacterial Artificial Chromosome [BAC] or oligo-based comparative genomic hybridization [CGH] microarray analysis)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
STKZ STK11 Gene, Full Gene Analysis In Process

 

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

Forms

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

2. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.

3. If not ordering electronically, complete, print, and send a Gastroenterology and Hepatology Test Request Form (T728) with the specimen (http://www.mayomedicallaboratories.com/it-mmfiles/gastroenterology-and-hepatology-test-request.pdf)

Mayo Medical Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

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