PancreasDx: Beyond Genetics for Pancreatitis

Chronic pancreatitis is an inflammatory disorder that leads to severe pain, loss of pancreatic function, and other disabling complications.

The disease has several different causes that largely depend on the specific genetic and environmental risk factors involved, and their interactions1. The disease subtypes require markedly different approaches to management, and involve different treatments and likely outcomes.

PancreasDx incorporates information from next generation genetic sequencing, patient health records and environmental exposures to provide a personalized guide for patient management.

Comprehensive Gene Panel

PancreasDx is a next generation sequencing panel of 12 genes related to susceptibility to the different subtypes of chronic pancreatitis.

The panel includes genes related to autosomal dominant hereditary pancreatitis, cystic fibrosis-related disorders, and genes in common pathways leading to pancreatitis, such as trypsin misregulation and hypertriglyceridemia. Genes that interact with alcohol consumption and smoking to drive pancreatic pathology are also represented, as are syndromes that include pancreatitis.

PancreasDx’s sequencing technology exceeds industry standards for sequencing depth and coverage.

Patients provide DNA for the panel through a saliva kit mailed to their home after they register and sign consent forms through the online portal.


  • Genes Represented
    Gene Test Method Associated Disease
    PRSS1-2 Sequencing, del/dup Hereditary Pancreatitis
    CFTR Sequencing, del/dup Chronic Pancreatitis, Cystic Fibrosis, CFTR-related disorders
    SPINK1 Sequencing, del/dup Hereditary Pancreatitis
    CEL Sequencing, del/dup Maturity-Onset Diabetes of the Young
    UBR1 Sequencing, del/dup Johanson-Blizzard syndrome
    SDBS Sequencing, del/dup Shwachman-Diamond Syndrome
    CPA1 Sequencing, del/dup Chronic Pancreatitis
    PRSS3 Sequencing, del/dup Pancreatitis disease-modifying
    CASR Sequencing, del/dup Pancreatitis disease-modifying
    CTRC Sequencing, del/dup Pancreatitis disease-modifying
    CLDN2 Sequencing, del/dup Pancreatitis disease-modifying
    GGT1 Sequencing, del/dup Pancreatitis disease-modifying
  • Technical Details
    • Genetic testing for PancreasDx is performed in a Clinical Laboratory Improvement Amendments (CLIA)-certified laboratory.
    • Genetic variants are interpreted with respect to American College of Medical Genetics (ACMG) guidelines2.
    • The PancreasDx panel covers exons, 10 base pairs into adjacent introns, and several intronic variants.
    • The assay has an average read depth of more than 1,000x.
    • Turnaround time is 4-6 weeks.
    • Indications for testing: one or more attacks, or suspected attacks, of acute pancreatitis. In addition, the following symptoms: abdominal pain after eating, chronic diarrhea, abnormal findings on a CT or MRI can, or an abnormal laboratory test linked to the pancreas. Early evaluation is encouraged to prevent extensive diagnostic evaluations, delayed diagnosis, and more severe end-stage disease.

Evidence-Based Management

Ariel’s reports are created under the guidance of physician-scientists who are internationally-renowned, and represent trusted leaders in the research and clinical care of pancreatic disease.

The final clinical report contains genetic test results and evidence-based guidance for patient management, including insights into clinical state, possible trajectory, and treatment options.

Genetic Counseling On-Demand

Through our partnership with the independent genetic counseling provider, Metis, we offer pre- and/or post-test genetic counseling for the clinics that don’t have genetic counselors on staff, or those that need extra help with genetic testing.

Online Portal

Ariel provides an easy-to-use and secure online portal for ordering PancreasDx and viewing results.

Patients log in to register, sign test consent forms, access help resources, and to complete their health profiles. Clinicians and staff have a centralized area for managing different patient orders, requesting genetic counseling, and electronic release of results to patients.

References

  1. LaRusch, J. & Whitcomb, D. C. Genetics of pancreatitis. Curr. Opin. Gastroenterol. 27, 467–74 (2011).
  2. Richards, S. et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 17, 405–423 (2015).