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.
- Andreas Gal
- Michael Beck
- Dominique P Germain