Peutz-Jeghers Syndrome, STK11, Full Gene Analysis
Use
The test evaluates patients with a personal or family history suggestive of Peutz-Jeghers syndrome (PJS) and aids in establishing a diagnosis. It allows for targeted cancer surveillance based on associated risks and identifies variants within genes known to increase risk for PJS, supporting genetic counseling and predictive testing for at-risk family members.
Special Instructions
Not provided.
Limitations
NGS may not detect all genomic variants, with limitations in sensitivity for large deletions/insertions and certain genomic regions, such as those with high GC content or homology. False positives/negatives may occur; negative results do not exclude genetic disorders' presence. Some gene regions may not be effectively evaluated, necessitating further clinical correlation and possible alternative testing methods.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
STK11
Gene
LOINC Codes
- 94216-9 - STK11 gene Del+Dup + Full Mut Anl Bld/T
- 62364-5 - Test performance info Spec
- 31208-2 - Specimen source
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 99622-3 - Patient resource info
- 48767-8 - Annotation comment Imp
- 85069-3 - Lab test method
- 48018-6 - Gene studied ID
- 18771-6 - Provider signing name
Result Turnaround Time
21-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender top (EDTA) or yellow top (ACD); acceptable: green top (Sodium heparin)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Patient Preparation
A previous bone marrow transplant from an allogenic donor will interfere with testing.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |