Neurology / Neuropediatrics

• Reanalysis and interpretation of Disease Exome (realignment and reanalysis of variants) + info
   
• Reanalysis and interpretation of NGS panels (realignment and reanalysis of variants) + info
   
• Reanalysis and interpretation of WES (realignment and reanalysis of variants) + info
   
• Recessives ataxias (deletion/duplication analysis on SETX, APTX and FXN genes) + info
   
• Refsum disease (sequence analysis of PEX7 gene) + info
   
• Refsum disease (sequence analysis of PHYH gene) + info
   
• Renpenning syndrome (deletion/duplication analysis on PQBP1 gene) + info
   
• Renpenning syndrome (sequence analysis of PQBP1 gene) + info
   
• Rett and Rett-like syndrome (NGS panel for 8 genes) + info
   
• Rett syndrome | Mental retardation, X-linked syndromic | Encephalopathy (deletion/duplication analysis on MECP2 gene) + info
   
• Rett syndrome (deletion/duplication analysis on MECP2 gene) + info
   
• Rett syndrome (sequence analysis of MECP2 gene) + info
   
• Rett syndrome, atypical | Early infantile epileptic encephalopathy (deletion/duplication analysis on CDKL5 gene) + info
   
• Rett syndrome, congenital variant (deletion/duplication analysis on FOXG1 gene) + info
   
• Rett syndrome, congenital variant (sequence analysis of FOXG1 gene) + info
   
• Rhabdoid tumor syndrome (deletion/duplication analysis on SMARCB1 gene) + info
   
• Rhabdoid tumor syndrome | Schwannomatosis (sequence analysis of SMARCB1 gene) + info
   
• Rigid spine congenital muscular dystrophy 1 (sequence analysis of SEPN1 gene) + info
   
• Rigid spine muscular dystrophy 1 | Myopathy, congenital, with fiber-type disproportion (deletion/duplication analysis on SELENON gene) + info
   
• Riley-Day syndrome (sequence analysis of IKBKAP gene) + info
   

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