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Test ID: HPPAN    
Hereditary Pancreatitis Panel, Varies

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Useful For Suggests clinical disorders or settings where the test may be helpful

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

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

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.

Highlights

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

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

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)

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Hereditary Pancreatitis Panel

Aliases Lists additional common names for a test, as an aid in searching

Hereditary Pancreatitis
Pancreatitis
Familial Pancreatitis
CFTR
CTRC
SPNK1
PRSS1
Next Gen Sequencing Test