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 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
Genetics Test Information
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in the STK11 gene associated with Peutz-Jeghers syndrome (PJS). See Method Description for additional details.
Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for PJS.
Special Instructions
Method Name
Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing.
Reporting Name
STK11 Full Gene AnalysisSpecimen Type
VariesSpecimen Minimum Volume
1 mL
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
21 to 28 daysPerforming Laboratory
Mayo Clinic Laboratories in RochesterTest 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
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 |