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
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: 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, contact interface support at interface.support@aruplab.com.
Cross References