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Pancreatitis (CTRC) Sequencing
2010703
Ordering Recommendation

For adults with idiopathic pancreatitis if other components of panel (CTFR, PRSS1SPINK1) have been sequenced without providing a complete explanation for the pancreatitis.

Mnemonic
CTRC FGS
Methodology
Polymerase Chain Reaction/Sequencing
Performed
Varies
Reported
7-14 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: 1 mL) 
Storage/Transport Temperature
Refrigerated. 
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
By report
Interpretive Data
Background Information for Pancreatitis (CTRC) Sequencing:
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 of Pancreatitis: Approximately 1 in 50,000.
Inheritance:
Autosomal recessive when caused by two pathogenic CTRC mutations.
Cause:
Pathogenic germ line mutations in CTRC, serine protease inhibitor Kazal type 1 (SPINK1), cystic fibrosis transmembrane regulator (CFTR) and cationic trypsinogen (PRSS1).
Gene Tested: CTRC.
Clinical Sensitivity:
Approximately 4 percent of individuals with pancreatitis have at least one CTRC mutation.
Methodology:
Bidirectional sequencing of the entire coding region and intron/exon boundaries of the CTRC gene.
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. Mutations in CFTR, PRSS1 and SPINK1 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
CPT Code(s)
81479
Components
Component Test Code*Component Chart NameLOINC
2010704CTRC Sequencing Specimen31208-2
2010705CTRC Sequencing Interpretation35474-6
* 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