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

• CFTRN | Cystic Fibrosis Transmembrane Conductance Regulator, CFTR, Full Gene Analysis, Varies
  • Assists with diagnosis, prognosis, clinical management, recurrent risk assessment, familial screening, and genetic counseling for those with CF.
  • Identifies genetic variants in individuals with atypical presentation of cystic fibrosis and in individuals where detection rates by targeted variant analysis are low or unknown for their ancestral background.

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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 variants that contribute to pancreatitis in an individual or family.
  • Identifies gene variants 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.

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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/