Fabry Disease
| 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 |