Pancreatitis (CTRC) Sequencing

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.

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.