Peutz-Jeghers Syndrome (STK11) Deletion/Duplication
Ordering Recommendation

This is a second tier test and REQUIRES PERMISSION from  ARUP's Genetic Counselor (800-242-2787, x2141) before ordering. Preferred initial test is the sequencing and deletion/duplication test.

Multiplex Ligation-dependent Probe Amplification
Within 14 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 2 mL) 
Storage/Transport Temperature
Unacceptable Conditions
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
By report
Interpretive Data
Background Information for Peutz-Jeghers Syndrome (STK11) Deletion/Duplication
Hamartomatous polyps of the gastrointestinal tract and hyperpigmented macules around the buccal mucosa, eyes, nostrils, perianal area, and fingers. Epithelial malignancies including colorectal, gastric, pancreatic, breast, ovarian, sex cord tumors with annular tubules and adenoma malignum of cervix. Cumulative risk for any cancer is 17 percent by age 40, 31 percent by age 50, 60 percent by age 60 and 85 percent by age 70.
Inheritance: Autosomal dominant.
Pathogenic STK11 gene mutations.
Clinical Sensitivity:
~ 45 percent in individuals with a family history and ~21 percent in individuals without a family history.
Methodology: Multiplex ligation-dependent probe amplification (MLPA) to detect large STK11 locus and intragenicdeletions/duplications.
Analytical Sensitivity and Specificity: 99 percent.
: Diagnostic errors can occur due to rare sequence variations. Breakpoints for large deletions/duplications will not be determined. STK11 base pair substitutions, small deletions/duplications, deep intronic, and regulatory region mutations will not be detected.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

CPT Code(s)
Component Test Code*Component Chart NameLOINC
2008378PJS (STK11) DelDup Specimen
2008379PJS (STK11) DelDup Interp
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
  • STK11 deletion/duplication assay