The Intelligence Behind Personalized Medicine (TM)

PancreasDx (TM) is a dedicated site for ordering diagnostic testing for pancreatic diseases. Testing is offered by allPANCREAS and generaties PancreasDx Reports. Please identify the specific questions and you will be guided through the testing process.

For Research Case Report Forms, click here (DOWNLOAD R-CRF). The forms should be printed and filled out for each subject. IRB approval and other requriements must be met for sample to be accepted.

Contact research@allpancreas.com for shipping instructions.

Not approved for clinical management. Please contact allPANCREAS LLC for inquiries.

• Ordering symptom-based complex diagnostic sets for pancreatic disease
• Ordering genetic testing for Mendilian disorders.

Background of Complex Pancreatic Disorders - SAPE Hypothesis [Whitcomb, PMID ]

The diagram below illustrates the progression of patients from asymptomatic (normal) through the common complications of pancreatic inflammation to, ultimately, pancreatic cancer. Some patients stop progression at one step or another, while others progress or skip steps.

Legend: The figure serves to illustrate the general organization and timing of complications of pancreatic injury and the inflammatory process. The figure and summary of the steps below are for illustration only. A qualified physician and/or genetic counselor is needed to provide the risk assessment and options for individual patients.

• Step 1. Normal pancreas, some patients may be at risk of pancreatic disease, or there may be disease that is unrecognized (sub-clinical). About 25% of patients with CP do not have clinical histories described in Step 2 or 3
• Step 2. AP - Acute pancreatitis is suddent injury and inflammation of the pancreas, and has many causes. The inflammation may be mild (limited to the pancreas with complete recovery), or more severe with damage to the pancreas, and, in the most severe cases, inflammation spreading to the body causing multi-organ dysfunction and even death. An episode of AP markedly increases the likelihood of recurrent acute pancreatitis unless interventions are made.
• Step 3. RAP- Recurrent acute pancreatitis is more than one episode of AP. Prevention is key, and a careful evaluation of environmental and genetic causes is medically necessary for mechanistic-based approaches to personalized medicine.
• Step 4. CP - Chronic pancreatitis is permanent damage to the pancreas from a variety of causes. These could be scaring (fibrosis), pathologic pain syndromes, diabetes mellitus (damage to the islets resulting in brittle Type IIIC DM), and pancreatic exocrine insufficiency (PEI) leading to maldigestion and many nutritional consequences.
• Step 5. PDAC - pancreatic ductal adenocarcinoma (pancreatic cancer) is a known complication of long-standing chronic pancreatitis, but it can also appears without any of the above symptmons in many cases. Smoking is a major risk factors as are a number of germline mutations.

Each patient is different - gene x environment interactions.

Pathogenic germ line genetic variants (mutations) linked to complex diseases are often common (>1% of the population), and do not cause disease alone.  Although they are not necessary or sufficient to cause a disease, the combination of these pathogenic genetic risk variants linked with one another, in the presence of pancreatic injury or stress can cause disease.  To understand and predict the mechanisms of pancreatic disease in and individual person, it is necessary to combine the genetic risk (see PancreasDx panels below), with family history, past medical history, medication history, surgical history, physician examination findings, demographic information, and biomarkers of disease state and activity.  Much of this information is already available in the patient’s medical records.  This information must accompany genetic information before an early diagnosis and guidance for care can be provided.  

Early signs and symptoms of pancreatic disease include:

• Bouts of abdominal pain (typically sharp, may radiate to the back and lasting 2-3 days).
• Abdominal pain with variable elevated pancreatic digestive enzymes (amylase, lipase)
• Unexplained maldigestion, bloating or diarrhea
• Unexplained weight loss, deficiency of fat soluble vitamins (ADEK) and/or vitamin B12
• Unexplained diabetes mellitus (i.e. not Type DM1)
• A combination of the above (i.e. DM with diarrhea and vitamin deficiencies)
• Other (e.g. abnormal laboratory values, abnormal abdominal imaging study, including pancreatic calcifications)

Early detection and eary diagnosis.

Over the past 100 years the approach to disease diagnosis has been based on identifying the single causative agene (e.g. a germ) or establishing and clinical or pathologic diagnosis based on a combination of factors that cause disease (called a syndrome).  In the case of chronic pancreatitis, for example, diagnosis requires irreversible morphologic damage to the pancreas before a diagnosis could be made, and this typically takes 5 years of suffering and repeated testing. 

The combination of early signs and symptoms, biomarkers and PancreasDx test panels used proprietary statistical approaches linked to known biology to provide both an early diagnosis, and a mechanistic diagnosis that may be useful in targeted therapy and monitoring disease progression, stability or regression

Question Addressed by PancreasDx panels:

NOTE: Available panels are currently for RESEARCH ONLY.The case report forms cover key phenotyping issues for all of the questions below. For further information please send an email to research@allpancreas.com .

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Mendelian Disorders

There are several uncommon or rare pancreatic diseases with a very stong genetic etiology that is caused by mutations in a single gene. These genetic diseases include the pancreas, and may include other organs. Cystic fibrosis,for example, involves the respiratory system, the digestive system (including the PANCREAS), the reproductive system and the sweat gland. Ordering information for these genes is given below.

Ordering Genetic Testing for Standard Mendilian Inherited disorders:

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Please go to the allPANCREAS web site for additional information.