Batten Disease (Juvenile Neuronal Ceroid-Lipofuscinosis)
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
Batten Disease
Juvenile Neuronal Ceroid-Lipofuscinosis
Disease Information
CLN3-Related Neuronal Ceroid-Lipofuscinosis causes a build-up of a fatty substance within certain cell structures will lead to the progressive death of neurons in the brain causing vision loss, seizures, and a decline in cognition.
Test Description
Specific mutation analysis of the CLN3 gene (1.2 kb del, exons 7-8).
Genes
Techniques
Panels