Antithrombin diagnostics by mass spectrometry: Development and analytical validation of a next-generation test

ABSTRACT:

Background

Antithrombin deficiency is a rare but severe disorder leading to high risk of thrombosis. The current clinical care pathway relies on activity tests, which only provide overall functional information on the in vitro activity of antithrombin. However, antithrombin exists in many different forms, also known as proteoforms, with varying clinical phenotypes. Precision diagnostics, facilitated by mass spectrometry, provides a strategy to improve patient diagnostics by molecular characterization.

Objectives

To develop and analytically validate a mass spectrometry–based test for molecular characterization of antithrombin.

Methods

The test was analytically validated based on predefined analytical performance specifications. The validation covered imprecision,

SUBMITTER:  

PROVIDER: S-EPMC10025100 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature