Clinical Utility Gene Card Update in 2017

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.