Diagnosis

Definitive diagnosis is established by:

Males1:

  • α-galactosidase A enzyme assay is diagnostic—measures enzyme activity level in plasma and leukocytes1
  • Affected males have reduced α-galactosidase A activity in plasma and leukocytes1 compared to normal reference ranges

Females1,2:

  • Enzyme assay alone is frequently insufficient for diagnosis in females2
  • DNA-based diagnosis is required/gold standard for females2
  • The addition of biomarker Lyso-GL3 may aid in the classification of phenotype in some cases2

    Overview
    Signs and Symptoms
    Diagnosis
    Publications
    Additional Materials

New to molecular testing?

This short video provides general education on molecular testing for healthcare providers who are unfamiliar with the process.

Diagnosing Fabry Disease:

To read more about diagnosing Fabry disease, including a grid of US labs currently offering both enzyme activity assays and GLA sequencing,

Fabry Disease Biomarker: Lyso-GL3:

To read more about Lyso-GL3 testing, including a grid of US labs,

References:
1. Ortiz A, et al. Mol Genet Metab. 2018;123(4):416–427. 2. Smid BE, et al. J Med Genet. 2015;52(4):262–268.

Next in Fabry Disease