Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
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Confirmation of suspected clinical diagnosis of familial or hereditary pancreatitis in patients with chronic pancreatitis
Identification of gene mutations contributing to pancreatitis in an individual or family
Identification of gene mutations to allow for predictive and diagnostic testing in family members
This test includes Sanger sequencing to evaluate for mutations in the PRSS1 gene, next-generation sequencing to evaluate for mutations in the CFTR, CTRC, and SPINK1 genes, and multiplex ligation-dependent probe amplification for the detection of large deletions and duplications within the CFTR gene.
This test evaluates for mutations within the 4 most common genes associated with susceptibility to chronic pancreatitis: PRSS1, CFTR, CTRC, and SPINK1
This assay provides diagnostic confirmation of hereditary pancreatitis or identification of gene mutations contributing to pancreatitis in an individual or family
Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing and Gene Dosage Analysis by Multiplex Ligation-Dependent Probe Amplification (MLPA)