Chronic pancreatitis (CP) is characterized by recurring inflammatory attacks that gradually cause irreversible damage to the pancreas and surrounding tissue. Risk factors for chronic pancreatitis fall into the following categories: toxic metabolic, idiopathic, autoimmune, obstructive, recurrent, and genetic. Alcoholism is the primary cause of chronic pancreatitis, but in some cases, chronic pancreatitis is inherited. Hereditary pancreatitis usually begins in childhood and is an autosomal dominant condition caused by mutations in the major pancreatic gene PRSS1. At least 17 mutations have been described (R122H the most common) on the PRSS1 gene that either cause or are associated with chronic pancreatitis. SPINK1 is a modifier gene, the normal function of which is to inhibit potential trypsin activity in the pancreas. Mutations in SPINK1 impair this protective function and have been identified as risk factors in idiopathic, familial, tropical and alcoholic pancreatitis. At least 14 mutations have been identified (N34S the most common) on the SPINK1 gene. Cystic Fibrosis (CF) is an autosomal recessive disorder and has an incidence of 1/3200 births in the U.S and a carrier frequency of 1/25 for Non-Hispanic Caucasian. Some forms of CF are also known to cause pancreatitis. Chymotrypsin C, encoded by the CTRC gene, normally functions to prevent premature trypsinogen activation in the pancreas and to permit trypsin degradation in the gut. Variants in the CTRC gene that reduce Chymotrypsin C’s activity or production have been detected with increased frequency in some patients with idiopathic chronic pancreatitis.  

The Ambry Test: Pancreatitis AMPLIFIED includes gene sequence analysis of PRSS1, SPINK1 and CFTR, and deletion/duplication analysis of CFTR. 

Analysis of CTRC is not included as part of this test. It is available individually or as part of Pancreatitis Plus Panel.  Please see additional testing options on the Test by Disease page under Pancreatitis.