Pancreatitis, Idiopathic (CFTR, PRSS1, SPINK1) Sequencing
2002005
Ordering Recommendation
Diagnostic testing for hereditary pancreatitis.  Predictive testing for hereditary pancreatitis.
Mnemonic
IP SEQ PAN
Methodology
Polymerase Chain Reaction/Sequencing
Performed
Varies
Reported
Within 35 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: 2 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, 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.



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)
81223; 81404 x2
Components
Component Test Code*Component Chart Name
2002006IP SEQ PAN Specimen
2002007CFTR Sequencing
2002008PRSS1 Sequencing
2002009SPINK1 Sequencing
2002010Pancreatitis, Idiopathic 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, CFTR, PRSS1 sequencing