Pancreatitis (CTRC) Sequencing
2010703
Ordering Recommendation
For adults with idiopathic pancreatitis if other components of panel (CTFR, PRSS1, SPINK1) 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.
Submit With Order
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.
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: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Components
| Component Test Code* | Component Chart Name | LOINC |
|---|---|---|
| 2010704 | CTRC Sequencing Specimen | 31208-2 |
| 2010705 | CTRC Sequencing Interpretation | 35474-6 |
Aliases