For adults with idiopathic pancreatitis if other components of panel (CTFR, PRSS1, SPINK1) have been sequenced without providing a complete explanation for the pancreatitis.
- Patient Preparation
- Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Unacceptable Conditions
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
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.
|Component Test Code*||Component Chart Name||LOINC|
|2010704||CTRC Sequencing Specimen||31208-2|
|2010705||CTRC Sequencing Interpretation||35474-6|