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Pancreatitis (PRSS1) Sequencing and Deletion/Duplication
3001768
Ordering Recommendation

Preferred test for individuals with idiopathic pancreatitis who are <20 years of age or have two affected first-degree relatives.

Mnemonic
PRSS1 FGA
Methodology
Polymerase Chain Reaction/Sequencing and Multiplex Ligation Dependent Probe Amplification
Performed
Varies
Reported
2-3 weeks
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
 
Collect
Lavender (K2EDTA), Pink (K2EDTA), or Yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 2 mL) 
Storage/Transport Temperature
Refrigerated. 
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 1 week; Refrigerated: 1 month; Frozen: 6 months 
Reference Interval
Interpretive Data
Background Information for Pancreatitis (PRSS1) Sequencing and Deletion/Duplication
Characteristics:
Characteristics of PRSS1-related hereditary pancreatitis: Recurrent episodes of pancreatic inflammation that typically begin to present in late childhood, often with signs and symptoms including abdominal pain, nausea, and vomiting. Ultimately, these recurrent episodes of acute pancreatitis progress to permanent damage of the pancreas.
Epidemiology: Incidence of chronic pancreatitis: 5-12 in 100,000 per year
Prevalence of chronic pancreatitis: approximately 50 in 100,000
Inheritance: Autosomal dominant.
Penetrance: Varies geographically; estimated at 80 percent in the US.
Cause: Pathogenic variants in the cationic trypsinogen (PRSS1) gene.
Clinical Sensitivity: 15 percent of hereditary pancreatitis is caused by pathogenic PRSS1 copy number variants or sequence variants.
Methodology: Bidirectional sequencing of PRSS1 coding regions and intron/exon boundaries and multiplex ligation-dependent probe amplification (MLPA) of the PRSS1 gene.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Regulatory region variants and deep intronic variants will not be detected. The breakpoints of large deletions/duplications will not be determined. Variants in genes other than PRSS1 are not evaluated.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com

Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Note
Hotline History
View Hotline History
Components
Component Test Code*Component Chart NameLOINC
3001769PRSS1 FGA Spcm31208-2
3001770PRSS1 FGA Interp21692-9
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • hereditary pancreatitis
  • Idiopathic pancreatitis molecular sequencing
  • PANC PANEL
  • PRSS1