| Test Information |
| Test Name |
Fabry Disease |
| Lab (Location) |
The Hospital for Sick Children |
| Category |
Metabolic |
| Subcategory |
Fabry Disease |
| Gene/Platform/Region List |
GLA |
| Test type |
Single Gene |
| Samples Accepted |
Blood, DNA, DNA (Not Accepted for MLPA) |
| Indications Diagnosis |
Diagnosis, Carrier / Cascade Testing, Prenatal |
| Test Methodology |
CNV, mRNA, Sequencing |
| Methodology Notes |
Gene Sequencing (Sanger - Robot); Targeted Sanger Sequencing; MLPA; mRNA Analysis |
| Diseases/Conditions |
GLA deficiency, Alpha-Galactosidase A deficiency, Anderson-Fabry disease, Angiokeratoma Corporis Diffusum, Ceramide Trihexosidase deficiency, Hereditary dystopic lipidosis |
| Notes |
DNA not accepted for MLPA |
