This test is part of AmbrySCREEN Version 2™, a targeted mutation panel. Common mutations associated with the following conditions are included on this panel.
This test is part of AmbrySCREEN Version 2™, a targeted mutation panel. Common mutations associated with the following conditions are included on this panel.
Galactokinase Deficiency. also called Galactosemia type II, is a disorder that results from mutations in the GALK1 gene which results in galactose levels to build up to toxic levels in the body. The accumulation of these substances damages tissues and organs, leading to feeding difficulties, a lack of energy, failure to thrive, jaundice, liver damage, and bleeding. Other serious complications of this condition can include overwhelming bacterial infections and shock.
Specific mutation analysis of the GALK1 gene (p.P28T, p.Q382X, p.T344M, p.G349S).