Test Catalog

Test ID: SPNKZ    
SPINK1 Gene, Full Gene Analysis, Varies

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

Identification of SPINK1 gene mutations contributing to pancreatitis in an individual or family

 

Identification of SPINK1 gene mutations to allow for predictive/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 next-generation sequencing to evaluate for mutations in the SPINK1 gene. Includes testing for the N34S and 194+2T>C (IVS3+2T>C) mutations. Sanger sequencing may be performed to confirm detected variants

Highlights

Full sequencing of the SPINK1 gene includes N34S and 194+2T>C mutations

 

This assay will identify gene mutations that may be contributing to pancreatitis disease 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 when appropriate

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

SPINK1 Gene, Full Gene Analysis

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

Hereditary Pancreatitis
Pancreatitis
Familial Pancreatitis
Next Gen Sequencing Test