Neurology / Neuropediatrics
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Neurogenic scapuloperoneal syndrome, Kaeser type (sequence analysis of DES gene)
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Neuromyotonia and axonal neuropathy AR (sequence analysis of HINT1 gene)
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Neuronal ceroid lipofuscinosis (deletion/duplication analysis on CLN3, CLN6, CLN8, PPT1 and TPP1 genes)
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Neuronal ceroid lipofuscinosis (NGS panel of 11 genes)
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Neuronal ceroid lipofuscinosis (sequence analysis of CTSD gene)
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Neuronal ceroid lipofuscinosis 1 (sequence analysis of PPT1 gene)
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Neuronal ceroid lipofuscinosis 2 (sequence analysis of TPP1 gene)
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Neuronal ceroid lipofuscinosis 3 (sequence analysis of CLN3 gene)
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Neuronal ceroid lipofuscinosis 4 (sequence analysis of DNAJC5 gene)
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Neuronal ceroid lipofuscinosis 5 (sequence analysis of CLN5 gene)
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Neuronal ceroid lipofuscinosis 6 (sequence analysis of CLN6 gene)
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Neuronal ceroid lipofuscinosis 7 (CLN7, sequence analysis of MFSD8 gene)
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Neuronal ceroid lipofuscinosis 8 (sequence analysis of CLN8 gene)
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Neuronal migration disorder (sequence analysis of CTNNA2 gene)
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Neuronopathy distal hereditary motor type IIA (sequence analysis of HSPB8 gene)
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Neuronopathy, distal hereditary motor (deletion/duplication analysis on IGHMBP2 gene)
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Neuropathy distal hereditary motor type VIIB (sequence analysis of DCTN1 gene)
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Neuropathy with sensory ataxic, dysarthria and progressive external opthalmoplegia (SANDO, sequence analysis of TWNK/C10orf2 gene)
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Neuropathy, ataxia, and retinitis pigmentosa (NARP, sequence analysis of MTATP6 gene)
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Neuropathy, hereditary motor and sensory, type VIB (sequence analysis of SLC25A46 gene)
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