Pancreatitis Panel (CFTR, CTRC, PRSS1, SPINK1), Sequencing

Casandra

Casandra Test Code AR86391Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3004788CPT Codes 81223, 81404, 81405

Pancreatitis Panel (CFTR, CTRC, PRSS1, SPINK1), Sequencing

Also known as: PANC NGS

Clinical Use

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Use

This test is used for individuals with a personal history of idiopathic pancreatitis. It detects sequence variants in the CFTR, CTRC, PRSS1, and SPINK1 genes, which are associated with idiopathic pancreatitis. Genetic testing can help determine a genetic cause or assess the risk of hereditary or idiopathic acute or chronic pancreatitis in family members. Chronic pancreatitis affects approximately 4-12 per 100,000 individuals per year and can lead to permanent damage to pancreatic structure and function.

Special Instructions

Counseling and informed consent are recommended for genetic testing. Consent forms are available online. New York clients need to use a New York state-approved laboratory for testing. The Pancreatitis Testing Patient History Form and Informed Consent for Genetic Testing are required with the order. This is a laboratory-developed test and is performed in a CLIA-certified lab for clinical purposes. Specimens from New York clients require specific handling and consent.

Limitations

A negative result does not exclude a heritable form of pancreatitis. The test detects variants within coding regions and exon-intron boundaries of the targeted genes, but deletions/duplications/inserts may not be detected by massively parallel sequencing. It does not identify regulatory region variants, deep intronic variants, or large deletions/duplications. Some variants might not be identified due to technical limitations from pseudogenes or homologous regions. It is not intended for low-level mosaic or somatic variants, gene conversion events, inversions, translocations, mtDNA mutations, or repeat expansions.

Test Details