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HelpTest 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.
Special Instructions
Method Name
Polymerase Chain Reaction (PCR) Amplification/DNA Sequencing
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)
Reporting Name
STK11 Gene, Full Gene AnalysisSpecimen Type
VariesSpecimen 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.
Additional Information: Specimen preferred to arrive within 96 hours of draw.
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.
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.
Cautions
In some cases, DNA alterations of undetermined significance may be identified.
Rare polymorphisms exist that could lead to false-negative or false-positive results. If results obtained do not match the clinical findings, additional testing should be considered.
A previous bone marrow transplant from an allogenic donor will interfere with testing. Call Mayo Medical Laboratories for instructions for testing patients who have received a bone marrow transplant.
Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in our interpretation of results may occur if information given is inaccurate or incomplete.
We strongly recommend that patients undergoing predictive testing receive genetic counseling both prior to testing and after results are available.
Day(s) Performed
Performed weekly, Varies
Report Available
14 daysPerforming Laboratory
Mayo Medical 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 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)