Homocystinuria Caused by Cystathionine Beta-Synthase 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
Homocystinuria
Disease Information
CBS (p.I278T, p.G307S) is characterized by dislocation of the lens in the eye, an increased risk of abnormal blood clots, skeletal abnormalities as well as developmental and learning problems in some cases.
Test Description
Specific mutation analysis of the CBS gene (p.G307S and p.I278T).
Genes
Tests