#ExistInterpData>Background Information for Pancreatitis, Hereditary (PRSS1) Sequencing:
Characteristics of Hereditary 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: Deleterious 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: Rare diagnostic errors can occur due to primer site mutations. 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 at www.aruplab.com.
See Compliance Statement C: www.aruplab.com/CS