Aspartylglucosaminuria
This test is part of AmbrySCREEN Version2™, a targeted mutation panel. Common mutations associated with the following conditions are included on this panel.
PrintThis test is part of AmbrySCREEN Version2™, a targeted mutation panel. Common mutations associated with the following conditions are included on this panel.
Disease Name
Aspartylglucosaminuria
Disease Information
Aspartylglucosaminuria is concentrated among persons of Finnish decent, but is also found, even more rarely, in other populations around the world. It becomes apparent after the infant is a few months old and symptoms may include coarse facial features, spine and eye deformities, behavior problems and mental retardation.
Test Description
Specific mutation testing of AGA (p.C163S, p.S72P)
Genes
Tests