Genetic Test Details
Fabry Disease
Test Information
- Title
-
Fabry Disease
- Category
- Metabolic
- Sub Category
-
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 , Prenatal
- Test Methodology
- CNV , 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: June 23, 2025