- 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
Characteristics of Idiopathic 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: Approximately 1 in 50,000.
Inheritance: Autosomal dominant for PRSS1; autosomal recessive for CFTR and SPINK1.
Cause: One deleterious PRSS1 mutation, two CFTR mutations; possibly two SPINK1 mutations, or one PRSS1 and one CFTR mutation.
Clinical Sensitivity: Approximately 45 percent of idiopathic pancreatitis cases have at least one mutation in CFTR, PRSS1, or SPINK1. An estimated 80 percent of hereditary pancreatitis is due to PRSS1 gene mutations.
Methodology: Bidirectional sequencing of the entire coding region and intron-exon boundaries of the CFTR, 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 deletions/duplications will not be detected.
|Component Test Code*||Component Chart Name||LOINC|
|2002006||IP SEQ PAN Specimen||31208-2|
|2002010||Pancreatitis, Idiopathic Interpretation|
- Idiopathic pancreatitis molecular sequencing
- SPINK1, CFTR, PRSS1 sequencing