Analysis ID 87
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness PANCREATITIS familial
OMIM #167800
Clinical information Chronic familial pancreatitis is often caused by genetic factors, such as mutations in the PRSS1 gene, encoding trypsinogen. Mutations may be located in the different gene regions and result in amino acid substitutions in the trypsinogen molecule. Altered proenzyme is more easily autoactivated inside the pancreatic cells. Due to the increased activity of the proteolitic enzymes, it comes to an autodigestion of the pancreas. Mutations in PRSS1 gene are identified in up to 70% cases. Another susceptibility factors are mutations in the SPINK1 gene – pancreatic inhibitor of trypsin excretion.
Type of analysis molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes PRSS1 (entire gene)
Analysis description Sequencing analysis of the entire coding sequence of PRSS1
Analysis indication Symptoms of familial pancreatitis
Analysis time 3-4 weeks
Refund No
CGM laboratory name Laboratory for diagnostics of the hereditary disorders