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.
Highlights
-Full sequencing of the PRSS1 gene includes R122H, N29I, and A16V mutations
-Mutations in the PRSS1 gene are the most common cause of hereditary pancreatitis
-Useful for diagnostic confirmation of hereditary pancreatitis
Method Name
A short description of the method used to perform the test
Polymerase Chain Reaction (PCR) Amplification followed by DNA sequencing
NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test
Aliases
Lists additional common names for a test, as an aid in searching
Hereditary Pancreatitis
Pancreatitis
Familial Pancreatitis
Specimen Type
Describes the specimen type validated for testing
Varies
Shipping Instructions
Specimen preferred to arrive within 96 hours of draw.
Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
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
Container/Tube:
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
Special Instructions
Library of PDFs including pertinent information and forms related to the test
Forms
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
Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the testing laboratory. The minimum volume is sufficient for one attempt at testing.
1 mL
Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected
Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Ambient (preferred) | ||
| Refrigerated | |||
| Frozen | |||
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
Method Description
Describes how the test is performed and provides a method-specific reference
PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information
Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.
Varies
Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.
Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Performing Laboratory Location
Indicates the location of the laboratory that performs the test
Fees :
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.
- Authorized users can sign in to Test Prices for detailed fee information.
- Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
- Prospective clients should contact their account representative. For assistance, contact Customer Service.
Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.
CPT Code Information
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
CPT codes are provided by the performing laboratory.
CPT codes are provided by the performing laboratory.
81404-PRSS1 (protease, serine, 1 [trypsin 1]) (eg, hereditary pancreatitis), full gene sequence
LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.
| Test Id | Test Order Name | Order LOINC Value |
|---|---|---|
| PRSSZ | PRSS1 Gene, Full Gene Analysis | 94215-1 |
| Result Id | Test Result Name |
Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
|
|---|---|---|
| 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 |