Diagnostic confirmation in symptomatic individual; disease prediction in presymptomatic individual with family history of Peutz-Jeghers syndrome (PJS).
- Patient Preparation
- Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Unacceptable Conditions
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
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.
|Component Test Code*||Component Chart Name||LOINC|
|2008395||Peutz-Jeghers Synd (STK11) Seq Spcm|
|2008396||Peutz-Jeghers Synd (STK11) Seq Interp|
- STK11 sequencing assay