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Molecular Testing for Pancreatic Amyloidosis

Last updated Feb. 10, 2020

Approved by: Krish Tangella MD, MBA, FCAP

Molecular Testing for Pancreatic Amyloidosis is helpful in aiding in a diagnosis of the amyloidosis disorder.


What are other Names for this Test? (Equivalent Terms)

  • Gene Mutation Analysis for Pancreatic Amyloidosis
  • Test for Molecular Diagnosis of Pancreatic Amyloidosis

What is Molecular Testing for Pancreatic Amyloidosis? (Background Information)

  • Molecular Testing for Pancreatic Amyloidosis is helpful in aiding in a diagnosis of the amyloidosis disorder. The lab test results may also be subsequently useful in taking appropriate treatment decisions
  • Amyloidosis is a group of disorders in which the ‘amyloid protein’ builds up in many organs and tissues of the body. These protein aggregates form abnormally and can build-up locally in a single organ or throughout the body organs
  • When the amyloid proteins get deposited in the pancreas, it leads to Pancreatic Amyloidosis. It is an extremely rare type that typically affects older men and women
  • Pancreatic Amyloidosis may occur as a manifestation of systemic AL amyloidosis, or as localized amyloidosis due to type-2 diabetes. The amyloid proteins can be found in both the endocrine and exocrine cells of the organ
  • Molecular Testing for Pancreatic Amyloidosis may be required to differentiate between localized disease due to diabetes and systemic AL amyloidosis 

A positive or negative test result should always be interpreted in the context of the individual’s overall signs and symptoms.

Molecular testing of proteins, in general, can be performed using a variety of methods. Some of these methods include:

  • In situ hybridization techniques, such as fluorescence in situ hybridization (FISH)
  • Immunohistochemistry (IHC)
  • Laser Microdissection (MLD): Mass spectrophotometric (MS) analysis of amyloid deposits 
  • Western blot test
  • Eastern blot test

The methodology used for Pancreatic Amyloidosis may vary from one laboratory to another.

Note: Molecular testing has limitations depending on the method being used, and genetic mutational abnormalities being tested. This can affect the results on a case-by-case basis. Consultation with your healthcare provider will help in determining the right test and right molecular method, based on individual circumstances.

What are the Clinical Indications for performing the Molecular Testing for Pancreatic Amyloidosis?

Molecular Testing for Pancreatic Amyloidosis may be undertaken in the following situations: 

  • To assist (and in some cases, confirm) the initial diagnosis of Pancreatic Amyloidosis
  • To distinguish other conditions that have similar features (signs and symptoms)
  • To help determine treatment options

How is the Specimen Collected for Molecular Testing for Pancreatic Amyloidosis?

The type and source and specimen sample requirements will depend on the preference of the individuals and the preference of the testing lab. Thus, it may vary from one individual to another and from one lab to another. Therefore, it is important to contact the testing lab for exact specimen requirements, before initiating the collecting and testing process.

In individuals with a preliminary diagnosis of Pancreatic Amyloidosis, the following samples may be required to classify amyloid proteins at the molecular level:

  • Biopsy sample of affected tissue, to stain with Congo Red and visualize areas of amyloid deposits under a fluorescent microscope
  • Laser dissection of amyloid deposits identified from tissue samples 
  • Trypsin digestion of dissected tissue (containing amyloid protein) sample to process the peptides for mass spectrometry

Important Information:

Limitations of specimen while testing for Pancreatic Amyloidosis

  • For blood specimens: Individuals, who have received platelet transfusions, red blood transfusion, or white blood (leukocyte) transfusion, should wait at least 4 weeks before providing a blood specimen
  • The following specimens may not be acceptable in individuals who have received heterologous bone marrow transplant (in the past):
    • Peripheral blood samples
    • Oral rinse specimens 
    • Bone marrow biopsy specimens
  • Testing for Pancreatic Amyloidosis should not be performed on a transplanted organ/specimen, since the genetic material belongs to the donor and not to the individual being tested
  • Formalin-fixed paraffin-embedded solid tumor tissue: In many cases, FFPE tissue blocks are usually not acceptable. Please contact the testing lab to ascertain, if it is an acceptable sample specimen
  • In some cases, a different source of specimen may be acceptable to the laboratory performing the test

Occasionally, additional samples may be required to either repeat the test or to perform follow-up testing.

Turnaround time for test results

  • Depending on the location of testing, it may take from 2 to 8 weeks from the time of sample collection, to obtain the test results

Sample storage information

  • Many hospitals preserve the paraffin blocks for at least 7 years. In general, older paraffin blocks (over 5 years) may affect the detection of specific mutations, due to degradation of the tissue specimen over time

Cost of Molecular Testing for Pancreatic Amyloidosis:

  • The cost of the test procedure depends on a variety of factors, such as the type of your health insurance, annual deductibles, co-pay requirements, whether your healthcare provider/facility is in-network or out-of-network of your insurance company 
  • In many cases, an estimate may be provided before the test is conducted. The final amount may depend upon the findings during the test procedure and post-operative care, if required

What is the Significance of the Molecular Testing for Pancreatic Amyloidosis Result?

The significance of Molecular Testing for Pancreatic Amyloidosis is explained below:

  • A positive test result, at the protein level, helps aid, and in some cases, confirm the diagnosis of Pancreatic Amyloidosis
  • The test results can help in the following manner:
  • Exclude other conditions presenting similar signs and symptoms
  • Differentiate between diabetes associated and systemic AL amyloidosis associated Pancreatic Amyloidosis: The major amyloid protein in localized diabetes associated Pancreatic Amyloidosis is islet amyloid polypeptide (IAPP). If the disease occurs as a manifestation of systemic amyloidosis, the amyloid particles may be predominantly light chain immunoglobulin
  • Determine the prognosis of the patient
  • In making treatment decisions

The laboratory test results are NOT to be interpreted as results of a "stand-alone" test. The test results have to be interpreted after correlating with suitable clinical findings and additional supplemental tests/information. Your healthcare providers will explain the meaning of your tests results, based on the overall clinical scenario.

Additional and Relevant Useful Information:

  • Many laboratories may not have the capability to perform this test. Only highly-specialized labs with advanced facilities and testing procedures may offer this test
  • Ongoing research may discover additional gene mutations for this condition. This may further contribute towards diagnosis and treatment. Please consult with your healthcare provider for updates

Certain medications may influence the outcome of the test. Hence, it is important to inform your healthcare provider of the complete list of medications (including any herbal supplements) you are currently taking. This will help the healthcare provider interpret your test results more accurately and avoid any possibility of a misdiagnosis.

Please visit our Laboratory Procedures Center for more physician-approved health information:

http://www.dovemed.com/common-procedures/procedures-laboratory/

References and Information Sources used for the Article:


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Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: Feb. 10, 2020
Last updated: Feb. 10, 2020