9030

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