ARUP's Laboratory Test Directory

Pancreatitis, Hereditary (PRSS1) Sequencing : 2002016
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Patient History for Pancreatitis Testing
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Additional Technical Information


Mnemonic: PRSS1 FGS

Ordering Recommendation: Detect mutations in the protease serine 1 or cationic trypsinogen (PRSS1) gene; exons 1-4 are sequenced to identify mutations.
Methodology: Polymerase Chain Reaction/Sequencing
Performed: Varies
Reported: Within 14 days
Specimen Required: 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.

Stability (collection to initiation of testing): Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
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: Rare diagnostic errors can occur due to primer site mutations. 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
CPT Code(s): 81404