Mayo Clinic Laboratories > Gastroenterology > Genetic testing > Pancreatic disease

Pancreatic disease

Precision analysis to confirm genetic causes

Several pancreatic conditions have genetic origins. Pinpointing a genetic diagnosis can deepen understanding of the prognosis and help clarify risk for family members of affected individuals.

28%

28% of children with chronic pancreatitis have a pathogenic variant of the CFTR gene.1

15%

15% of individuals with acute recurrent pancreatitis or chronic pancreatitis had pathogenic variants of the CFTR gene.1

Pancreatic Test menu

Cystic fibrosis Cystic fibrosis
Hereditary pancreatitis Hereditary pancreatitis

Cystic fibrosis

Pancreatitis can be a presenting symptom in children and adults affected by cystic fibrosis (CF). Our genetic test uses next-generation sequencing to analyze the CFTR gene for single nucleotide and copy number variants associated with the condition.

Key testing

Hereditary pancreatitis

Our hereditary pancreatitis testing uses genetic sequencing to detect single nucleotide and copy number variants in four genes associated with hereditary pancreatitis.

Key testing

  • HPANP | Hereditary Pancreatitis Gene Panel, Varies
    • Detects variants in the CFTR, CTRC, PRSS1, and SPINK1 genes.
    • Confirms clinical diagnosis of familial or hereditary pancreatitis in patients with chronic pancreatitis.
    • Identifies gene mutations that contribute to pancreatitis in an individual or family.
    • Identifies gene mutations to allow for predictive and diagnostic testing in family members.
  • PRSSZ | PRSS1 Gene, Full Gene Analysis, Varies
    • Confirms suspected clinical diagnosis of hereditary pancreatitis in patients with chronic pancreatitis.
Download Molecular Genetics: Congenital inherited diseases patient information

Highlights

Targeted panel boosts accuracy of hereditary pancreatitis testing: Linda Hasadsri, M.D., Ph.D., and Huong T. Cabral, M.S., C.G.C.

Linda Hasadsri, M.D., Ph.D., and Huong T. Cabral, M.S., C.G.C., explain how Mayo Clinic Laboratories' targeted test panel facilitates accurate diagnosis of hereditary pancreatitis, which heightens the risk for pancreatic cancer. Test results can guide cancer monitoring for patients and their families.

Learn more
References
  1. Shelton C, LaRusch J, Whitcomb DC. Pancreatitis Overview. 2014 Mar 13 [Updated 2020 Jul 2]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK190101/
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