Preferred test for individuals with history of idiopathic pancreatitis.
- Patient Preparation
- Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 2 mL)
- Storage/Transport Temperature
- Unacceptable Conditions
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
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.
|Component Test Code*||Component Chart Name||LOINC|
|2002006||IP SEQ PAN Specimen||31208-2|
|2002010||Pancreatitis, Idiopathic Interpretation|