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
Informed consent is required for New York clients. Patients who have received a previous bone marrow transplant must follow special testing instructions. Saliva samples, while acceptable, are not recommended due to potential DNA quality issues; alternative specimens may be required if testing is inconclusive.
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
LOINC Codes
- 94216-9
- 62364-5
- 31208-2
- 50397-9
- 82939-0
- 69047-9
- 99622-3
- 48767-8
- 85069-3
- 48018-6
- 18771-6
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 |