Definitive diagnosis is established by:
- α-galactosidase A enzyme assay is diagnostic—measures enzyme level in plasma and leukocytes1
- Affected males have reduced α-galactosidase A activity in plasma and leukocytes1 compared to normal reference ranges
- Enzyme assay alone is frequently insufficient for diagnosis in females2
DNA-based diagnosis is required/gold-standard for females with normal to low-normal enzyme activity levels and is advisable in all suspected patients2
The addition of biomarker lyso-GL3 may increase the sensitivity of diagnostic testing in females
References: 1. Ortiz A, et al. Mol Genet Metab. 2018;123:416-427. 2. Smid BE, et al. J Med Genet. 2015;52:262–268.