Disease

Fabry disease1, 2

Gene

GLA

Inheritance XL
Current Treatments agalsidase alfa enzyme replacement
Evidence for Treatment guideline3
Non-Molecular Testing Availability yes
Non-Molecular Test serum globotriaosylsphingosine4
ClinGen https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC047
Disease Frequency (per 100,000) 17.4255
Genes Included in Disease Frequency GLA
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Fabry+Disease&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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