Test ID: HPKM
Hereditary Pancreatitis, Known Mutation
Secondary ID
A test code used for billing and in test definitions created prior to November 2011
88691
NY State Approved
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Conditional
Useful For
Suggests clinical disorders or settings where the test may be helpful
Confirming the diagnosis of hereditary pancreatitis in patients with chronic pancreatitis who also have a family member with a documented PRSS1 gene mutation
Screening of at-risk individuals when a mutation has been identified in an affected family member
Genetics Test Information
Provides information that may help with selection of the correct test or proper submission of the test request
Documentation of the specific familial mutation must be provided with the specimen in order to perform this test.
Special Instructions and Forms
Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test
Method Name
A short description of the method used to perform the test
Polymerase Chain Reaction (PCR)/DNA Sequencing
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)
Reporting Name
A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Hered Pancreatitis, Known Mut
Aliases
Lists additional common names for a test, as an aid in searching
A16V
Cationic Trypsinogen Gene
Hereditary Pancreatitis
N29I
PRSS1
R122C
R122H
Cationic Trypsinogen Gene
Hereditary Pancreatitis
N29I
PRSS1
R122C
R122H


