Neurology / Neuropediatrics
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Hamamy syndrome (sequence analysis of IRX5 gene)
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Hartnup disorder (sequence analysis of SLC6A19 gene)
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Hawkinsinuria (sequence analysis of HPD gene)
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Helsmoortel-van der Aa syndrome (sequence analysis of ADNP gene)
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Hemiplegic familial migraine (deletion/duplication analysis on CACNA1A gene)
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Hemiplegic familial migraine (deletion/duplication analysis on SCN1A gene)
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Hemiplegic familial migraine (NGS panel of 3 genes)
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Hepatic failure, early onset, and neurologic disorder (sequence analysis of SCO1 gene)
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Hereditary amyloidosis (NGS panel of 19 genes)
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Hereditary ataxias (NGS panel of 47 genes)
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Hereditary chorea (WES based NGS panel for 14 genes)
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Hereditary dementias (NGS panel of 44 genes)
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Hereditary distal motor neuropathy type VA (sequence analysis of BSCL2 gene)
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Hereditary essential tremor (sequence analysis of DRD3 gene)
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Hereditary folate malabsorption (sequence analysis of SLC46A1 gene)
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Hereditary nonpolyposis colorectal cancer (HNPCC, NGS panel for 5 genes, including CNV analysis) - Plus
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Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (WES based NGS panel for 204 genes)
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Hereditary proximal myopathy with early respiratory failure (sequence analysis of TTN gene)
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Hereditary sensory and autonomic neuropathy IV (insensitivity to pain with anhidrosis, HSAN4, sequence analysis of NTRK1 gene)
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Hereditary sensory neuropathy type IA (HSAN1A, sequence analysis of SPTLC1 gene)
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