GTR Home > Tests > Peutz-Jeghers Syndrome (STK11) Sequencing and Deletion/Duplication


Test order codeHelp: 2008398

Test name


Peutz-Jeghers Syndrome (STK11) Sequencing and Deletion/Duplication (STK11 FGA)

Purpose of the test


This is a clinical test intended for Help: Diagnosis, Screening



1 condition tested. Click Indication tab for more information.


Molecular Genetics
DDeletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis

Summary of what is tested

1 genes and variants. Click Methodology tab for more information.


Clinical validity


Not provided

Clinical utility


Not provided

How to order


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. Stability (collection to initiation of testing): Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable. ARUP test-request forms are specific to each client laboratory or hospital and are thus not available on the ARUP website. However, they are available through the client hospital/laboratory sendout department. ARUP patient history form is required for ARUP to perform Peutz-Jeghers genetic testing and/or interpret patient results and should accompany each genetic test order. Genetic counseling and informed consent are recommended for genetic testing. Consent forms for genetic testing may be found on the ARUP website at: ARUP accepts samples 24/7.
Order URL Help:

Test services

  • Clinical Testing/Confirmation of Mutations Identified Previously, Order code: 2001961, comments
  • Custom Prenatal Testing, Order code: 2001980, comments
  • Custom mutation-specific/Carrier testing, Order code: 2001961, comments

Practice guidelines

  • ACG, 2015
    ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
  • ACMG, 2015
    ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
  • ACMG/NSGC, 2015
    A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.
  • ACMG, 2013
    ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
  • CAPS, 2013
    International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer
  • NSGC, 2004
    Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.

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