Neurology / Neuropediatrics
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Spastic paraplegia types 1 and 2, X-linked (MASA, CRASH and Pelizaeus-Merbancher syndromes, sequence analysis of L1CAM and PLP1 genes)
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Speech-language disorder 1 (deletion/duplication analysis on FOXP2 gene)
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Speech-language disorder 1 (sequence analysis of FOXP2 gene)
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Spinal muscular atrophy (SMA, deletion/duplication analysis on SMN1 gene)
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Spinal muscular atrophy (WES based NGS panel for 30 genes, including CNV analysis)
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Spinal muscular atrophy distal type V (sequence analysis of GARS gene)
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Spinal muscular atrophy with respiratory distress (sequence analysis of IGHMBP2 gene)
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Spinal muscular atrophy, Finkel type | Amyotrophic lateral sclerosis 8 (deletion/duplication analysis of VAPB gene)
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Spinal muscular atrophy, lower extremity, autosomal dominant, type 2 (sequence analysis of BICD2 gene)
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Spinal muscular atrophy, X-linked 2, infantile (deletions/duplications analysis of UBA1 gene)
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Spinal muscular atrophy, X-linked, infantile (SMA, sequence analysis of UBA1 gene)
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Spinocerebellar ataxia 1 (SCA1, CAG expansion on ATXN1 gene)
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Spinocerebellar ataxia 10 (SCA10, ATTCT expansion on ATXN10 gene)
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Spinocerebellar ataxia 10, AR (SCAR10, sequence analysis of ANO10 gene)
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Spinocerebellar ataxia 11 (SCA11, sequence analysis of TTBK2 gene)
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Spinocerebellar ataxia 12 (SCA12, detection of CAG expansion on PPP2R2B gene)
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Spinocerebellar ataxia 13 (SCA13, sequence analysis of KCNC3 gene)
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Spinocerebellar ataxia 13, AR (SCAR13, sequence analysis of GRM1 gene)
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Spinocerebellar ataxia 14 (SCA14, sequence analysis of PRKCG gene)
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Spinocerebellar ataxia 15, AR (SCAR15, sequence analysis of KIAA0226 gene)
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