Neurology / Neuropediatrics
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Amyotrophic lateral sclerosis type 2, juvenile | Primary lateral sclerosis, juvenile | Spastic paralysis, infantile onset ascending (sequence analysis of ALS2 gene)
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Amyotrophic lateral sclerosis, susceptibility to (sequence analysis of NEFH gene)
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Amyotrophic lateral sclerosis/motor neuron disease (WES based NGS panel of 29 genes, including CNV analysis)
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Amyotrophy hereditary neuralgic (deletion/duplication on SEPT9 gene)
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Amyotrophy hereditary neuralgic (sequence analysis of SEPT9 gene)
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ANE syndrome (sequence analysis of RBM28 gene)
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Angelman syndrome (deletion/duplication analysis on UBE3A gene)
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Angelman syndrome (sequence analysis of UBE3A gene)
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Antidepressants and antipsychotics pharmacogenetics
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Apolipoprotein E deficiency (sequence analysis of APOE gene)
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Apparent mineralocorticoid excess (sequence analysis of HSD11B2 gene)
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Arginase deficiency (sequence analysis of ARG1 gene)
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Arginine:glycine amidinotransferase deficiency (sequence analysis of GATM gene)
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Argininosuccinate lyase deficiency (deletion/duplication on ASL gene)
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Arthrogryposis (NGS panel for 49 genes)
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Arthrogryposis (sequence analysis of VIPAS39 gene)
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Arthrogryposis (WES based NGS panel of 240 genes, including CNV analysis)
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Arthrogryposis multiplex congenita, distal, type 1 | Arthrogryposis, distal, type 2B | Nemaline myopathy 4 | CAP myopathy 2 (deletion/duplication analysis on TPM2 gene)
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Arthrogryposis, distal type 1 (sequence analysis of TPM2 gene)
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Arthrogryposis, distal type 2B (sequence analysis of MYH3 gene)
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