Pancreatitis (PRSS1) Sequencing
2002016
Ordering Recommendation
Preferred test for individuals who are <20 years of age OR those with two affected first-degree relatives.
Mnemonic
PRSS1 FGS
Methodology
Polymerase Chain Reaction/Sequencing
Performed
Varies
Reported
Within 14 days  
New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
  
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.  
Unacceptable Conditions
  
Remarks
  
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable  
Reference Interval
   
Interpretive Data
Background Information for Pancreatitis (PRSS1) Sequencing:
Characteristics of Dominant Pancreatitis:
Recurrent episodes of acute pancreatitis usually beginning in the second decade of life progressing to chronic pancreatitis (inflammation of the pancreas) leading to permanent tissue damage.
Incidence:
Less than 1 in 100,000.
Inheritance:
Autosomal dominant.
Penetrance:
Estimated at 80 percent.
Cause:
Pathogenic PRSS1 gene mutations.
Clinical Sensitivity:
Approximately 80 percent for hereditary pancreatitis and 10 percent for idiopathic pancreatitis.
Methodology:
Bidirectional sequencing of the entire coding region and intron-exon boundaries of the PRSS1 gene.
Analytical Sensitivity and Specificity:
99 percent.
Limitations:
Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations, deep intronic mutations, and large deletions/duplications will not be detected.



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

See Compliance Statement C: www.aruplab.com/CS  
Note
 
CPT Code(s)
81404
Components
Component Test Code*Component Chart Name
2002017PRSS1 FGS Specimen
2002018PRSS1 Sequencing Interpretation
* 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
  • Idiopathic pancreatitis molecular sequencing
  • SPINK1 sequencing