PRSS1 Gene, Full Gene Analysis, Varies

Casandra

Casandra Test Code MC13088Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID PRSSZCPT Code 81404

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

For patients who have received a bone marrow transplant from an allogenic donor, the testing may be complicated. It is advised to contact the testing facility for specific instructions if the patient has undergone such a procedure. Informed consent is required for New York clients, documented either on the request form or electronic order with a copy on file.

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

Methodology

NGS (Targeted)

Biomarkers

Testing consists of full gene sequencing of the PRSS1 gene, including R122H, N29I, and A16V mutations. These mutations are the most common cause of hereditary pancreatitis.

No genes

Gene

R122H • Mutation • Categorical (e.g., Positive / Negative / Indeterminate)

N29I • Mutation • Categorical (e.g., Positive / Negative / Indeterminate)

A16V • Mutation • Categorical (e.g., Positive / Negative / Indeterminate)