Galactosemia
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
Galactosemia
Disease Information
Mutations in the GALT gene are responsible for classic galactosemia (type I) which completely eliminates the activity of the enzyme produced from the GALT gene, preventing the normal processing of galactose and resulting in the life-threatening signs and symptoms of this disorder.
Testing Benefits & Indication
Specific mutation analysis of the GALT gene (p.Q188R, p.S135L, p.K285 N).
Genes
Techniques
Tests