Neurology / Neuropediatrics

• uccinic semialdehyde dehydrogenase deficiency (deletion/duplication analysis on ALDH5A1 gene) + info
   
• Ullrich congenital muscular dystrophy (NGS panel for 3 genes) + info
   
• Ullrich congenital muscular dystrophy (sequence analysis of COL6A1 gene) + info
   
• Ullrich congenital muscular dystrophy (sequence analysis of COL6A2 gene) + info
   
• Ullrich congenital muscular dystrophy (sequence analysis of COL6A3 gene) + info
   
• Uniparental disomy of chromosome 7 (MS-MLPA) + info
   
• Unverricht-Lundborg disease (detection of expansion on CSTB gene) + info
   
• Unverricht-Lundborg disease (sequence analysis of CSTB gene) + info
   
• Urocanase deficiency (sequence analysis of UROC1 gene) + info
   
• Usher syndrome type 1B (sequence analysis of MYO7A gene) + info
   
• Usher syndrome type 2C | Familiar epilepsy with febrile seizures, type 4 (sequence analysis of ADGRV1 gene) + info