Neurology / Neuropediatrics

• Nephronophthisis type 1 | Joubert syndrome type 4 | Senior-Loken Syndrome (sequence analysis of NPHP1 gene) + info
   
• Nephropathy due to CFHR5 deficiency (sequence analysis of CFHR5 gene) + info
   
• Neuroacanthocytosis (sequence analysis of VPS13A gene) + info
   
• Neuroacanthocytosis, Mcleod type (sequence analysis of XK gene) + info
   
• Neuroblastoma (sequence analysis of ALK gene) + info
   
• Neuroblastoma (sequence analysis of NME1 gene) + info
   
• Neurodegeneration due to cerebral folate transport deficiency (sequence analysis of FOLR1 gene) + info
   
• Neurodegeneration with brain iron accumulation (deletion/duplication analysis on PANK2 and PLA2G6 genes) + info
   
• Neurodegeneration with brain iron accumulation (NGS panel for 8 genes) + info
   
• Neurodegeneration with brain iron accumulation 1 (NBIA1, sequence analysis of PANK2 gene) + info
   
• Neurodegeneration with brain iron accumulation 4 (sequence analysis of C19ORF12 gene) + info
   
• Neurodegeneration with brain iron accumulation 5 (sequence analysis of WDR45 gene) + info
   
• Neurodegeneration with brain iron accumulation type 2B | Parkinson disease type 14 | Infantile neuroaxonal dystrophy type 1 (sequence analysis of PLA2G6 gene) + info
   
• Neurodegeneration with brain iron accumulation | Hyperferritinemia with or without cataract | L-ferritin deficiency (sequence analysis of FTL gene) + info
   
• Neurofibromatosis type 1 (sequencing and CNV analyses of NF1 gene) + info
   
• Neurofibromatosis type 2 (sequence analysis of NF2 gene) + info
   
• Neurofibromatosis type I (deletion/duplication analysis on NF1 gene) + info
   
• Neurofibromatosis type II (deletion/duplication analysis on NF2 gene) + info
   
• Neurofibromatosis types 1 and 2, Legius syndrome and schwannomatosis (NGS panel of 5 genes) + info
   
• Neurofibromatosis-Noonan syndrome (sequence analysis of NF1 gene) + info
   

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