# Validation of a Mass Spectrometry–Based Proteomics Molecular Pathology Assay

## TL;DR

This paper describes the successful validation of a mass spectrometry-based test for identifying amyloid proteins in patients, enabling accurate diagnosis and treatment.

## Contribution

The study provides a validated roadmap for implementing proteomics-based assays in clinical molecular pathology.

## Key findings

- The amyloid protein identification by LC–MS test has been successfully validated for clinical use.
- The assay has been applied to 223 clinical cases, providing actionable disease classification.
- The test led to the discovery of novel forms of amyloidosis.

## Abstract

Mass spectrometry–based proteomics has been applied to many fields and has made major contributions to our understanding of biology and medicine. Translation of this technology and assays to patient testing has been limited despite grand expectations. The amyloid protein identification by LC–MS test is one successful example of the adaptation of this technology by molecular and clinical pathology laboratories. Through the illustration of this assay, we will address some of these challenges and outline a process for validation and implementation of mass spectrometry–based proteomics in the molecular pathology laboratory.

•Road map for validation & implementation of a clinical MS proteomics test.•Amyloid subtyping is a successful implementation of proteomics in clinical testing•A diagnostic that enables accurate classification & supports targeted treatment.•Assay resulted in discovery of novel forms of amyloidosis.

Road map for validation & implementation of a clinical MS proteomics test.

Amyloid subtyping is a successful implementation of proteomics in clinical testing

A diagnostic that enables accurate classification & supports targeted treatment.

Assay resulted in discovery of novel forms of amyloidosis.

Amyloid protein identification by LC–MS test is a clinical pathology assay that has been validated and implemented for patient testing. A total of 223 clinical cases have been reported and provided disease classification information, allowing for proper disease management. This successful example of a mass spectrometry (MS)–based clinical test can serve as a case study for future molecular pathology assay development and validation.