Test Catalog

Test ID: PRSSZ    
PRSS1 Gene, Full Gene Analysis, Varies

Useful For Suggests clinical disorders or settings where the test may be helpful

Confirmation of suspected clinical diagnosis of hereditary pancreatitis (HP) in patients with chronic pancreatitis


Identification of familial PRSSI mutation to allow for predictive and diagnostic testing in family members

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

Testing consists of full gene sequencing of the PRSS1 gene. Includes the following commonly observed mutations: R122H, N29I, and A16V.

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Hereditary pancreatitis (HP) is a rare autosomal dominant disorder associated with approximately 80% penetrance. HP is characterized by early onset acute pancreatitis during childhood or early adolescence. The acute pancreatitis in these patients generally progresses to chronic pancreatitis by adulthood and can eventually lead to both exocrine and endocrine pancreatic insufficiency. Patients with HP are also at an increased risk for developing pancreatic cancer. Studies have estimated the lifetime risk of developing pancreatic cancer to be as high as 40%.


Mutations in the protease serine 1 or cationic trypsinogen (PRSS1) gene are a common cause of HP. It has been reported that as many as 80% of patients with symptomatic hereditary pancreatitis have a causative PRSS1 mutation. HP cannot be clinically distinguished from other forms of pancreatitis. However, PRSS1 mutations are generally restricted to individuals with a family history of pancreatitis. PRSS1 mutations are infrequently found in patients with alcohol-induced and tropical pancreatitis.


Although several mutations have been identified, the R122H, N29I and A16V mutations are the most common disease-causing mutations associated with HP. Data suggest that the R122H mutation results in more severe disease and earlier onset of symptoms than the A16V mutation. Although these 3 alterations account for >90% of mutations detected in the cationic trypsinogen gene, the inability to identify mutations in approximately 20% of families with HP suggests the involvement of other loci or unidentified mutations in the cationic trypsinogen gene.


Mutations in other genes, such as SPINK1, CFTR and CTRC have been associated with hereditary and familial pancreatitis. Abnormalities in these genes are not detected by this assay. However, genetic testing for these genes simultaneously, including PRSS1, is available by ordering HPPAN / Hereditary Pancreatitis Panel.

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

An interpretive report will be provided.

Interpretation Provides information to assist in interpretation of the test results

All detected alterations will be evaluated according to American College of Medical Genetics and Genomics (ACMG) recommendations.(1) Variants will be classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

Some individuals who have a diagnosis of hereditary pancreatitis and/or involvement of PRSS1 may have a mutation that is not identified by this method (eg, large genomic deletions or duplications, promoter mutations, deep intronic mutations). The absence of a mutation, therefore, does not eliminate the possibility of a diagnosis of hereditary pancreatitis. For predictive testing of asymptomatic individuals, it is important to first document the presence of an PRSS1 gene mutation in an affected family member.


In some cases, DNA alterations of undetermined significance may be identified.


Rare polymorphisms exist that could lead to false-negative or false-positive results. If results obtained do not match the clinical findings, additional testing should be considered.


Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in our interpretation of results may occur if information given is inaccurate or incomplete.

Clinical Reference Recommendations for in-depth reading of a clinical nature

1. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015 May;17(5):405-424

2. Teich N, Mossner J: Hereditary chronic pancreatitis. Best Pract Res Clin Gastroenterol 2008;22(1):115-130

3. Rebours V, Levy P, Ruszniewski P: An overview of hereditary pancreatitis. Dig Liver Dis 2012;44(1):8-15

4. Ellis I: Genetic counseling for hereditary pancreatitis-the role of molecular genetics testing for the cationic trypsinogen gene, cystic fibrosis and serine protease inhibitor Kazal type 1. Gastroenterol Clin North Am 2004;33:839-854

5. Solomon S, Whitcomb DC, LaRusch J. PRSS1-Related Hereditary Pancreatitis. In: GeneReviews. Edited by RA Pagon, MP Adam, HH Ardinger HH, et al: University of Washington, Seattle. 1993-2014. 2012 Mar 1. Available at www.ncbi.nlm.nih.gov/books/NBK84399

Special Instructions Library of PDFs including pertinent information and forms related to the test