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
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New to molecular testing?
This short video provides general education on molecular testing for healthcare providers who are unfamiliar with the process.
![](/dam/jcr:946ed4e4-5e50-4fb4-aa5b-0262b660d5fa/ui-thumbnail-Fabry-fabrydx.png)
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,
![](/dam/jcr:f1d18a66-4776-4f0a-a6c7-ed4e00f7c4bf/ui-thumbnail-Fabry-lyso.png)
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.
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