Genetic Test Details
Fabry Disease
Test Information
- Titre
- Fabry Disease
- Catégorie
- Metabolic
- Sub Category
- Fabry Disease
- Gene/Platform/Region List
- GLA
- Test type
- Single Gene
- Samples Accepted
- DNA , Blood , DNA (Not Accepted for MLPA)
- Indications
- Carrier Cascade Testing , Diagnosis , Prenatal
- Test Methodology
- Sequencing , mRNA , CNV
- 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: 18 juin 2025