List of diseases covered by
Urea Cycle Disorder NGS panel
Gene | Condition |
ARG1 | Argininemia |
ASL | Argininosuccinic aciduria |
ASS1 | Citrullinemia |
CPS1 | Carbamoylphosphate synthetase I deficiency |
NAGS | N-acetylglutamate synthase deficiency |
OAT | Gyrate atrophy of choroid and retina with or without ornithinemia |
OTC | Ornithine transcarbamylase deficiency |
SLC7A7 | Lysinuric protein intolerance |
SLC25A13 | Citrullinemia, adult-onset type II; Citrullinemia, type II, neonatal-onset |
SLC25A15 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome |