Pancreatitis (PRSS1) Sequencing and Deletion/Duplication

Background Information for Pancreatitis (PRSS1) Sequencing and Deletion/Duplication
Characteristics: Characteristics of PRSS1-related hereditary pancreatitis: Recurrent episodes of pancreatic inflammation that typically begin to present in late childhood, often with signs and symptoms including abdominal pain, nausea, and vomiting. Ultimately, these recurrent episodes of acute pancreatitis progress to permanent damage of the pancreas.
Epidemiology: Incidence of chronic pancreatitis: 5-12 in 100,000 per year
     Prevalence of chronic pancreatitis: approximately 50 in 100,000
Inheritance: Autosomal dominant.
Penetrance: Varies geographically; estimated at 80 percent in the US.
Cause: Pathogenic variants in the cationic trypsinogen (PRSS1) gene.
Clinical Sensitivity: 15 percent of hereditary pancreatitis is caused by pathogenic PRSS1 copy number variants or sequence variants.
Methodology: Bidirectional sequencing of PRSS1 coding regions and intron/exon boundaries and multiplex ligation-dependent probe amplification (MLPA) of the PRSS1 gene.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Regulatory region variants and deep intronic variants will not be detected. The breakpoints of large deletions/duplications will not be determined. Variants in genes other than PRSS1 are not evaluated.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com