Feedback
Pancreatitis, Panel (CFTR, CTRC, PRSS1, SPINK1) Sequencing
2010876
Ordering Recommendation

Preferred test for individuals with history of idiopathic pancreatitis.

Mnemonic
PANC PANEL
Methodology
Polymerase Chain Reaction/Sequencing
Performed
Varies
Reported
28-35 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
ARUP Consult®
Disease Topics
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
Characteristics of 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, CTRC and SPINK1.
Causes:
One dominant pathogenic germline PRSS1 mutation, or two CFTR mutations, or two SPINK1 mutations, or two CTRC mutations, or possibly a combination of mutations in two of the above recessive genes.
Clinical Sensitivity: Approximately 50 percent of individuals with idiopathic pancreatitis have at least one pathogenic mutation in CFTR, CTRC, PRSS1 or SPINK1. An estimated 80 percent of hereditary pancreatitis is due to PRSS1 gene mutations.
Methodology:
Bidirectional sequencing of all coding regions and intron/exon boundaries of the CFTR, CTRC, 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 deletion/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.

Note
N/A
CPT Code(s)
Components
Component Test Code*Component Chart NameLOINC
2002006IP SEQ PAN Specimen31208-2
2002007CFTR Sequencing21654-9
2002008PRSS1 Sequencing21692-9
2002009SPINK1 Sequencing41051-4
2002010Pancreatitis, Idiopathic Interpretation50398-7
2010875CTRC Sequencing35474-6
* 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