Neurology / Neuropediatrics

• Congenital fibrosis of extraocular muscles (sequence analysis of TUBB3 gene) + info
   
• Congenital hypopituitarism (NGS panel for 7 genes) + info
   
• Congenital mirror movements type 1 (deletion/duplication analysis of DCC gene) + info
   
• Congenital mirror movements type 1 (sequence analysis of DCC gene) + info
   
• Congenital muscular dystrophies (NGS panel for 31 genes) + info
   
• Congenital muscular dystrophies (WES based NGS panel for 46 genes, including CNV analysis) + info
   
• Congenital muscular dystrophy and hypoglycosylation of a-dystroglycan (sequence analysis of B3GALNT2 gene) + info
   
• Congenital muscular dystrophy with intellectual disability, type B, 6 (sequence analysis of LARGE gene) + info
   
• Congenital Myasthenia (WES based NGS panel for 28 genes, including CNV analysis) + info
   
• Congenital myasthenic syndrome (deletion/duplication analysis on COLQ gene) + info
   
• Congenital myasthenic syndrome (deletion/duplication analysis on RAPSN) + info
   
• Congenital myasthenic syndrome (sequence analysis of COLQ gene) + info
   
• Congenital myasthenic syndrome type 1A | Congenital myasthenic syndrome type 1B | Multiple pterygium syndrome, lethal type (deletion/duplication analysis on CHRNA1 gene) + info
   
• Congenital thrombotic thrombocytopenic purpura (deletion/duplication analysis of ADAMTS13 gene) + info
   
• Coproporphyria (sequence analysis of CPOX gene) + info
   
• Cornelia de Lange syndrome (deletion/duplication analysis on NIPBL gene) + info
   
• Cornelia de Lange syndrome (NGS panel of 5 genes) + info
   
• Cornelia de Lange syndrome (sequence analysis of NIPBL gene) + info
   
• Cornelia de Lange syndrome 2 (deletion/duplication analysis on SMC1A gene) + info
   
• Cornelia de Lange syndrome 3 (deletion/duplication analysis on SMC3 gene) + info
   

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