Preferred test for individuals who are <20 years of age OR those with two affected first-degree relatives.
- 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 Dominant Pancreatitis: Recurrent episodes of acute pancreatitis usually beginning in the second decade of life progressing to chronic pancreatitis (inflammation of the pancreas) leading to permanent tissue damage.
Incidence: Less than 1 in 100,000.
Inheritance: Autosomal dominant.
Penetrance: Estimated at 80 percent.
Cause: Pathogenic PRSS1 gene mutations.
Clinical Sensitivity: Approximately 80 percent for hereditary pancreatitis and 10 percent for idiopathic pancreatitis.
Methodology: Bidirectional sequencing of the entire coding region and intron-exon boundaries of the PRSS1 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.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
|Component Test Code*||Component Chart Name||LOINC|
|2002017||PRSS1 FGS Specimen|
|2002018||PRSS1 Sequencing Interpretation|
- Idiopathic pancreatitis molecular sequencing