STK11 Peutz-Jeghers syndrome
Use
Peutz-Jeghers syndrome is caused by mutations in the STK11 gene. It is associated with multiple Peutz-Jeghers type hamartomatous gastrointestinal polyps, mucocutaneous hyperpigmentation, and an increased risk for various cancers, primarily within the gastrointestinal tract. Genetic testing of STK11 is indicated for individuals with specific clinical presentations such as multiple PJS-type polyps, mucocutaneous pigmentation, or relevant family histories. Detection of a mutation in the STK11 gene can aid in confirming a diagnosis of Peutz-Jeghers syndrome, facilitating appropriate management and surveillance strategies.
Special Instructions
Family variant testing is available at no additional cost for blood relatives of patients with detected pathogenic mutations. Testing should be completed within 90 days of the original report date.
Limitations
While the test can detect more than 99.9% of described mutations in the STK11 gene, there may be pathogenic variants beyond the test's scope. Certain intronic and less common variants might not be reported if they lie beyond specific boundaries of significance. Limitations may also arise from technical issues such as insufficient DNA or incomplete sequence coverage.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Container
Blood collection tube
Collection Instructions
See specimen requirements on AmbryGen website.
Patient Preparation
Ensure no history of allogenic bone marrow or stem cell transplant.
Storage Instructions
Follow storage guidelines as specified on the website.
Causes for Rejection
Specimens with contamination or improper labeling.