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Accurate Subtyping Using Novel Diagnostic Methodology

Updated: Decmeber 2014
Published: December 2012

What is Amyloidosis?

Amyloidosis is a systemic disease characterized by abnormal deposition of cellular proteins in extracellular sites in a physical form that is resistant to normal degradation processes. The disease is often systemic and life threatening, frequently affecting vital organs such as the kidneys or the heart.

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Accurate Subtyping of Amyloidosis

At least 25 different proteins have been shown to cause amyloidosis and the underlying pathogenesis of each subtype of amyloidosis is unique. The treatment approach for each subtype of amyloidosis may be radically different. Mayo Clinic has developed a novel diagnostic methodology that can subtype amyloidosis in routine biopsy specimens with high accuracy. The method combines specific sampling of the amyloid plaques by laser microdissection and the analytical power of tandem mass spectrometry-based proteomic analysis.

In the clinical validation set, the LMD/MS method identified the amyloid type with 100% specificity and sensitivity.1 This provides a major improvement on previous widely used methods such as immunohistochemistry, which provides lower sensitivity and specificity (40-80%).


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Clinical References

  1. Vrana JA, Gamez JD, Madden BJ, et al: Classification of amyloidosis by laser microdissection and mass spectrometry-based proteomic analysis in clinical biopsy specimens. Blood 2009;114(24):4957-4959
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