Severe weather warning in your area. Please stay indoors and stay safe. Read more
Fabry Disease
Test Information
- Title
-
Fabry Disease
- Category
- Metabolic
- Test Name (CMS Title)
-
Fabry Disease
- Gene/Platform/Region List
-
GLA
- Test type
- Single Gene
- Samples Accepted
- Blood, DNA, DNA (Not Accepted for MLPA)
- Indications
- Diagnosis, Carrier Cascade Testing
- Test Methodology
- mRNA, Sequencing
- Methodology Notes
-
Gene Sequencing (Sanger - Robot); Targeted Sanger Sequencing; MLPA; mRNA Analysis
- Disease/Condition
-
GLA deficiency, Alpha-Galactosidase A deficiency, Anderson-Fabry disease, Angiokeratoma Corporis Diffusum, Ceramide Trihexosidase deficiency, Hereditary dystopic lipidosis
Last Updated: December 09, 2025
