Diagnostic Strategy for Females Suspected of Fabry Disease

Fabry disease (FD) is a X-linked inherited disorder where deficiency of the α-Galactosidase A (α-Gal A) enzyme causes Globotriaosylceramide (GL-3/Gb3) lipid accumulation in the cells of different organs.

Due to random X-chromosome inactivation, heterozygous women can potentially be affected with Fabry disease.

In a pilot study, we investigated the combined strategy of measuring the biomarker, Lyso-globotriaosylceramide (Lyso-Gb3/Lyso-GL-3), simultaneously with α-Galactosidase A enzyme activity in over 11,000 females suspected of Fabry disease. Our results show this combined strategy significantly improves the diagnostic detection of Fabry disease in females compared to enzyme testing alone.

Our study results have been published in Clinical Genetics.

Our Medical Laboratory offers a diagnostic panel for Fabry disease which includes enzymatic testing for α-Gal A (α-Galactosidase A) together with biomarker Lyso-GL-3 (Lyso-Gb3). Genetic confirmatory testing is included in the panel.

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