Neurology / Neuropediatrics
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Leigh syndrome, French-Canadian type (sequence analysis of LRPPRC gene)
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Lesch-Nyhan syndrome | Kelley-Seegmille syndrome (deletion/duplication analysis on HPRT1 gene)
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Lesch-Nyhan syndrome | Kelley-Seegmiller syndrome (sequence analysis of HPRT1)
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Leukodystrophy and leukoencephalopathy (WES based NGS panel of 90 genes, including CNV analysis)
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Leukodystrophy demyelinating adult-onset, AD (sequence analysis of LMNB1 gene)
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Leukodystrophy hypomyelinating (NGS panel for 3 genes)
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Leukodystrophy hypomyelinating type 3 (sequence analysis of AIMP1 gene)
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Leukodystrophy hypomyelinating type 4 (sequence analysis of HSPD1 gene)
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Leukodystrophy hypomyelinating type 7 (sequence analysis of POLR3A gene)
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Leukodystrophy hypomyelinating type 8 (sequence analysis of POLR3B gene)
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Leukoencephalopathy cystic without megalencephaly (sequence analysis of RNASET2 gene)
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Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (deletion/duplication analysis of DARS2 gene)
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Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (sequence analysis of DARS2 gene)
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Leukoencephalopathy with dystonia and motor neuropathy (sequence analysis of SCP2 gene)
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Leukoencephalopathy with vanishing white matter (sequence analysis of EIF2B1 gene)
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Leukoencephalopathy with vanishing white matter (sequence analysis of EIF2B2 gene)
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Leukoencephalopathy with vanishing white matter (sequence analysis of EIF2B3 gene)
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Leukoencephalopathy with vanishing white matter (sequence analysis of EIF2B4 gene)
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Leukoencephalopathy with Vanishing White Matter (sequence analysis of EIF2B5 gene)
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Leukoencephalopathy, diffuse hereditary, with spheroids (sequence analysis of CSF1R gene)
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