Clinical utility gene card for: Fabry disease – update 2016

Name of the disease (synonyms) Fabry disease, Anderson-Fabry disease. OMIM# of the disease 301500. Name of the analysed gene(s) or DNA/chromosome segments Alpha-galactosidase A, GLA. OMIM# of the gene(s) 300644. Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in the GLA gene in diagnostic, predictive and prenatal settings for Fabry disease and for risk assessment in patients’ relatives.