Preferred 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.
Polymerase Chain Reaction/Sequencing/Multiplex Ligation-dependent Probe Amplification
Lavender (K2EDTA), Pink (K2EDTA), or Yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 2 mL)
Ambient: 1 week; Refrigerated: 1 month; Frozen: 6 months
Background Information for Peutz-Jeghers Syndrome (STK11) Sequencing and Deletion/Duplication
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 99 percent in individuals with a family history and about 91 percent in those without a family history.
Methodology: Bidirectional sequencing and multiplex ligation-dependent probe amplification (MLPA) of the entire coding region and intron-exon boundaries of the STK11 gene.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations and deep intronic mutations will not be detected. Deletion/duplication breakpoints will not be determined. This assay is not designed to detect somatic variants associated with malignancy. Interpretation of this test result may be impacted if the patient has had an allogeneic stem cell transplantation.
Laboratory Developed Test (LDT)
|Component Test Code*||Component Chart Name||LOINC|
|2008399||PJS (STK11) Seq, DelDup Spcm|
|2008400||PJS (STK11) Seq, DelDup Interp|
- STK11 sequencing and deletion/duplication assay