Fabry Disease
Test Information
- Titre
-
Fabry Disease
- Catégorie
- 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
- Diagnostics, 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
Dernière Mise à Jour: 09 décembre 2025