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.
- 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
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: ~ 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.
Limitations: 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.
|Component Test Code*||Component Chart Name||LOINC|
|2008378||PJS (STK11) DelDup Specimen|
|2008379||PJS (STK11) DelDup Interp|
- STK11 deletion/duplication assay