College of American Pathologists (CAP)/American College of Medical Genetics and Genomics (ACMG) proficiency testing for urinary glycosaminoglycan analysis: A summary of performance.

ABSTRACT:

Purpose

Glycosaminoglycans (GAGs) accumulate in patients with mucopolysaccharidoses (MPS), multiple sulfatase deficiency, and mucolipidoses; measurement of total GAGs and the specific excretion pattern by fractionation can aid in their diagnosis. Since 1993, the College of American Pathologists with the American College of Medical Genetics and Genomics has offered proficiency testing (PT) for urine GAG analysis accessible to laboratories worldwide.

Methods

Data from PT surveys administered from 2016 to 2022 were assessed for trends in participation and methodological platforms used, as well as analytical performance and diagnostic accuracy by method and disease.

Results

The number of participating laboratories declined from 43 in 2016 to 28 in 2022. Fourteen urine sam

SUBMITTER: Cusmano-Ozog K 

PROVIDER: S-EPMC11814667 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature