Pancreatitis, Idiopathic (CFTR, PRSS1, SPINK1) Sequencing (INACTIVE as of 8/18/14: Refer to 2010876)
Ordering Recommendation
Polymerase Chain Reaction/Sequencing
Within 35 days
New York DOH Approval Status
This test is New York DOH approved.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 2 mL) 
Storage/Transport Temperature
Unacceptable Conditions
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
Interpretive Data
Background Information for Pancreatitis, Idiopathic (CFTR, PRSS1, SPINK1) Sequencing:
Characteristics of Idiopathic Pancreatitis:
Inflammation of the pancreas resulting in abdominal pain, fever, nausea and vomiting with no obvious environmental trigger (ie. chronic alcohol exposure, gallstones, abdominal trauma, medications, infections and tumors).
Incidence: Approximately 1 in 50,000.
Inheritance: Autosomal dominant for PRSS1; autosomal recessive for CFTR and SPINK1.
Cause: One deleterious PRSS1 mutation, two CFTR mutations; possibly two SPINK1 mutations, or one PRSS1 and one CFTR mutation.
Clinical Sensitivity: Approximately 45 percent of idiopathic pancreatitis cases have at least one mutation in CFTR, PRSS1, or SPINK1. An estimated 80 percent of hereditary pancreatitis is due to PRSS1 gene mutations.
Methodology: Bidirectional sequencing of the entire coding region and intron-exon boundaries of the CFTR, PRSS1 and SPINK1 genes.
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.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

CPT Code(s)
81223; 81404 x2
Component Test Code*Component Chart NameLOINC
2002006IP SEQ PAN Specimen31208-2
2002007CFTR Sequencing21654-9
2002008PRSS1 Sequencing21692-9
2002009SPINK1 Sequencing41051-4
2002010Pancreatitis, Idiopathic Interpretation
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  • Idiopathic pancreatitis molecular sequencing
  • SPINK1, CFTR, PRSS1 sequencing