Neurology / Neuropediatrics

• Leukodystrophy hypomyelinating (NGS panel for 3 genes) + info
   
• Leukodystrophy hypomyelinating type 3 (sequence analysis of AIMP1 gene) + info
   
• Leukodystrophy hypomyelinating type 4 (sequence analysis of HSPD1 gene) + info
   
• Leukodystrophy hypomyelinating type 7 (sequence analysis of POLR3A gene) + info
   
• Leukodystrophy hypomyelinating type 8 (sequence analysis of POLR3B gene) + info
   
• Leukoencephalopathy cystic without megalencephaly (sequence analysis of RNASET2 gene) + info
   
• Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (deletion/duplication analysis of DARS2 gene) + info
   
• Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (sequence analysis of DARS2 gene) + info
   
• Leukoencephalopathy with dystonia and motor neuropathy (sequence analysis of SCP2 gene) + info
   
• Leukoencephalopathy with vanishing white matter (sequence analysis of EIF2B1 gene) + info
   
• Leukoencephalopathy with vanishing white matter (sequence analysis of EIF2B2 gene) + info
   
• Leukoencephalopathy with vanishing white matter (sequence analysis of EIF2B3 gene) + info
   
• Leukoencephalopathy with vanishing white matter (sequence analysis of EIF2B4 gene) + info
   
• Leukoencephalopathy with Vanishing White Matter (sequence analysis of EIF2B5 gene) + info
   
• Leukoencephalopathy, diffuse hereditary, with spheroids (sequence analysis of CSF1R gene) + info
   
• Limb-girdle muscular dystrophies (NGS panel of 42 genes) + info
   
• Limb-girdle muscular dystrophy (deletion/duplication analysis on SGCA, SGCB, SGCD, SGCG and FKRP genes) + info
   
• Limb-girdle muscular dystrophy - dystroglycanopathy type C2 (MDDGC2, sequence analysis of POMT2 gene) + info
   
• Limb-girdle muscular dystrophy 2A (LGMD2A, sequence analysis of CAPN3 gene) + info
   
• Limb-girdle muscular dystrophy type 1A (LGMD1A, deletion/duplication analysis of MYOT gene) + info
   

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