PRSS1 Gene, Full Gene Analysis, Varies

Clinical Use

Use

This test is used for the confirmation of a suspected clinical diagnosis of hereditary pancreatitis (HP) in patients with chronic pancreatitis. It also aids in the identification of familial PRSS1 mutation, allowing for predictive and diagnostic testing in family members. HP is an autosomal dominant disorder characterized by early onset acute pancreatitis during childhood or adolescence, which can progress to chronic pancreatitis by adulthood, leading to both exocrine and endocrine pancreatic insufficiency. Patients with HP are at an increased risk for developing pancreatic cancer, with studies estimating a lifetime risk as high as 40%.

Special Instructions

Not provided.

Limitations

The test may not identify all mutations linked to hereditary pancreatitis, such as large genomic deletions, duplications, promoter mutations, or deep intronic mutations. Thus, the absence of a mutation does not rule out the possibility of HP. In some cases, DNA alterations of undetermined significance may be identified, and rare polymorphisms could result in false-negative or false-positive results. Test results should be interpreted considering clinical findings, family history, and other laboratory data.

Test Details

New York Approved