STK11 Sequencing and Deletion/Duplication
Use
This test is used to identify individuals with autosomal dominant Peutz‑Jeghers syndrome (PJS) by detecting single‑nucleotide variants, deletions, and duplications in the STK11 gene, which encodes the serine/threonine‑protein kinase STK11 protein. It may be appropriate for individuals presenting with multiple hamartomatous gastrointestinal polyps, mucocutaneous hyperpigmentation in areas such as the mouth, lips, nose, eyes, genitalia, or fingers, or a family history of PJS. Genetic counseling and informed consent are strongly recommended for appropriate clinical interpretation and patient management.
Special Instructions
Sample reports and information regarding specific variants analyzed are available at QuestHereditaryCancer.com. If a familial mutation is known, consider the Hereditary Cancer Single Site(s) test (code 93945). Coverage verification is performed upon order receipt; if anticipated out‑of‑pocket cost exceeds $100, the ordering provider or patient will be notified before initiation. A genetic counselor is available via Quest Genomics Client Services (1.866.GENE.INFO) for assistance.
Limitations
Turnaround may be affected by incomplete orders or insurance preauthorization delays. Negative results do not rule out PJS; some variants may not be detected due to technical limitations. Variant interpretation is based on current knowledge and may change; regular re‑evaluation via VariantIQ is advised. For known familial variants, a single‑site test may be more appropriate.
Methodology
NGS
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided