Neurology / Neuropediatrics
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Aicardi-Goutieres syndrome 2 (sequence analysis of RNASEH2B gene)
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Aicardi-Goutieres syndrome 3 (sequence analysis of RNASEH2C gene)
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Aicardi-Goutieres syndrome 4 (sequence analysis of RNASEH2A gene)
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Aicardi-Goutieres syndrome type 5 (sequence analysis of SAMHD1 gene)
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Aicardi-Goutieres syndrome, 2 (deletion/duplication analysis on RNASEH2B gene)
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Alexander disease (sequence analysis of GFAP gene)
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Allan-Herndon-Dudley syndrome (sequence analysis of SLC16A2 gene)
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Alpha methylacyl CoA racemase deficiency (sequence analysis of AMACR gene)
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Alpha-mannosidase (sequence analysis of MAN2B1 gene)
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Alpha-methylacetoacetic aciduria (sequence analysis of ACAT1 gene)
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Alpha-N-acetylgalactosaminidase deficiency (sequence analysis of NAGA gene)
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Alpha-thalassemia X-linked intellectual disability syndrome (sequence analysis of ATRX gene)
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Alstrom syndrome (deletion/duplication analysis of ALMS1 gene)
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Alternating hemiplegia of childhood 2 (sequence analysis of ATP1A3 gene)
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Alzheimer disease (disease exome based NGS panel for 14 genes)
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Alzheimer disease type 1 (sequence analysis of APP gene)
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Alzheimer disease type 1 (sequence analysis of exons 16 and 17 of APP gene)
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Alzheimer disease type 1, 3 e 4 (deletion/duplication analysis of APP, PSEN1 and PSEN2 genes)
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Alzheimer disease type 3 (sequence analysis of PSEN1 gene)
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Alzheimer disease type 4 (sequence analysis of PSEN2 gene)
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