Fabry Disease

Test Information

Title
Fabry Disease
Lab
Category
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
Diagnosis, 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

Last Updated: November 14, 2025

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