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Test ID: PRSSZ    
PRSS1 Gene, Full Gene Analysis, Varies

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

Confirmation of suspected clinical diagnosis of hereditary pancreatitis (HP) in patients with chronic pancreatitis

 

Identification of familial PRSSI mutation 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

Testing consists of full gene sequencing of the PRSS1 gene. Includes the following commonly observed mutations: R122H, N29I, and A16V.

Highlights

-Full sequencing of the PRSS1 gene includes R122H, N29I, and A16V mutations

-Mutations in the PRSS1 gene are the most common cause of hereditary pancreatitis

-Useful for diagnostic confirmation of hereditary pancreatitis

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

Polymerase Chain Reaction (PCR) Amplification followed by DNA sequencing

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

PRSS1 Gene, Full Gene Analysis

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

Hereditary Pancreatitis
Pancreatitis
Familial Pancreatitis