Guanidinoacetate Methyltransferase Deficiency
This test is part of AmbrySCREEN Version 2™, a targeted mutation panel. Common mutations associated with the following conditions are included on this panel.
PrintThis test is part of AmbrySCREEN Version 2™, a targeted mutation panel. Common mutations associated with the following conditions are included on this panel.
Disease Name
Guanidinoacetate methyltransferase deficiency
Disease Information
Guanidinoacetate Methyltransferase deficiency is characterized by severe intellectual disability, therapy-resistant epilepsy, and movement disorders including chorea and ataxia.
Test Description
Specific mutation analysis of p.K109K, p.W20S on the GAMT gene.
Genes
Panels