Genetic Testing

For genetic testing of PRSS1 (trypsinogen) or CFTR go to Ambry Genetics (http://www.ambrygen.com/)

Genetic Testing for Hereditary Pancreatitis

Careful consideration should be made when considering genetic testing for any condition. Some of the considerations are discussed in the Frequently Asked Questions page or in a Consensus Statement from 2001. Note that recent progress has been made in the diagnosis of all forms of recurrent acute and chronic pancreatitis and that we now recommend CFTR and SPINK1 testing as well as trypsinogen testing.

For genetic counseling see Gene Review on HP, and Current Gastroenterology Reports on Genetics of Pancreatitis for Physicians and Genetic Counselors.

Note: genetic testing for trypsinogen mutations has been exclusively licensed to Ambyr Genetics.

Genetic testing for hereditary pancreatitis is currently available only on a commercial basis. Commercial testing is conducted through a licensed laboratory (Ambry Genetics) for a specified fee that may be covered by your insurance plan. A small blood sample is drawn at your doctor’s office or at a hospital laboratory and is then sent to the commercial laboratory for genetic evaluation. Results are then provided to your referring physician or counselor. Check with your insurance carrier to determine whether genetic testing is covered by your health plan.

Genetic Testing for Cystic Fibrosis.

Genetic testing for cystic fibrosis in available through a number of laboratories.  It is recommended that testing is done through a Cystic Fibrosis Center so that proper counseling, test interpretation and confirmatory functional studies can be performed.

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