Pancreatitis, Hereditary (PRSS1) Sequencing
2002016
 
Ordering Recommendation
Detect mutations in the protease serine 1 or cationic trypsinogen (PRSS1) gene; exons 1-4 are sequenced to identify mutations.
Mnemonic
PRSS1 FGS
Methodology
Polymerase Chain Reaction/Sequencing
Performed
Varies
Reported
Within 14 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory.
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, Hereditary (PRSS1) Sequencing:
Characteristics of Hereditary 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:
Deleterious 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, contact interface support at interface.support@aruplab.com.
Cross References