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

Useful For

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

Method Name

Polymerase Chain Reaction (PCR) Amplification followed by DNA sequencing

Reporting Name

PRSS1 Gene, Full Gene Analysis

Specimen Type


Shipping Instructions

Specimen preferred to arrive within 96 hours of draw.

Specimen Required

Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Specimen Type: Whole blood


Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

Specimen Stability Information: Ambient (preferred)/Refrigerated

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)

Clinical Information

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

An interpretive report will be provided.


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.

Clinical Reference

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

Day(s) Performed


Report Available

14 to 20 days

Test Classification

This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

81404-PRSS1 (protease, serine, 1 [trypsin 1]) (eg, hereditary pancreatitis), full gene sequence

LOINC Code Information

Test ID Test Order Name Order LOINC Value
PRSSZ PRSS1 Gene, Full Gene Analysis 94215-1


Result ID Test Result Name Result LOINC Value
52464 Result Summary 50397-9
52465 Result 82939-0
52466 Interpretation 69047-9
52467 Additional Information 48767-8
52468 Specimen 31208-2
52469 Source 31208-2
52470 Released By 18771-6


1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Molecular Genetics: Congenital Inherited Diseases Patient Information (T521) in Special Instructions

Mayo Clinic Laboratories | Genetics and Pharmacogenomics Catalog Additional Information: