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Peutz-Jeghers Syndrome (STK11) Sequencing
2008394
Ordering Recommendation

Acceptable test to confirm diagnosis of Peutz-Jeghers syndrome (PJS) in symptomatic individual. Also use for disease prediction in presymptomatic individual with family history of PJS.

Mnemonic
STK11 FGS
Methodology
Polymerase Chain Reaction/Sequencing
Performed
Varies
Reported
21-28 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
 
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Refrigerated. 
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
By report
Interpretive Data
Background Information for Peutz-Jeghers Syndrome (STK11) Sequencing
Characteristics:
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.
Cause:
Pathogenic STK11 gene mutations.
Clinical Sensitivity: About 55 percent in individuals with a family history and about 70 percent in individuals without a family history.
Methodology: Bidirectional sequencing of the entire STK11 coding region and intron-exon boundaries.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Some STK11 gene regulatory region mutations, deep intronic mutations, and large deletions/duplications will not be detected. Diagnostic errors can occur due to rare sequence variations.

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.

Components
Component Test Code*Component Chart NameLOINC
2008395Peutz-Jeghers Synd (STK11) Seq Spcm
2008396Peutz-Jeghers Synd (STK11) Seq Interp
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Aliases
  • STK11 sequencing assay