Neurology / Neuropediatrics
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Vitreoretinopathy (NGS panel of 27 genes)
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Waardenburg syndrome (deletion/duplication analysis of SOX10 and EDNRB genes)
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Waardenburg syndrome (deletion/duplication analysis of TYR gene)
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Waardenburg syndrome (NGS panel of 7 genes)
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Waardenburg syndrome type 2 (sequence analysis of MITF gene)
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Waardenburg syndrome type 2D (deletion/duplication anlaysis on SNAI2 gene)
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Waardenburg syndrome type 4 (sequence analysis of EDNRB and EDN3 genes)
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Waardenburg syndrome type 4 (sequence analysis of SOX10 gene)
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Waardenburg syndrome type 4A (sequence analysis of EDNRB gene)
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Waardenburg syndrome type 4B (sequence analysis of EDN3 gene)
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Waardenburg syndrome type 4B | Congenital central hypoventilation syndrome (deletion/duplication analysis on EDN3)
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Waardenburg syndrome types 1 and 3 (deletion/duplication analysis on PAX3, MITF and SOX10 genes)
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Waardenburg syndrome types 1 and 3 (sequence analysis of PAX3 gene)
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Waardenburg syndrome, type 2D (sequence analysis of SNAI2 gene)
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WAGR syndrome (deletion/duplication analysis on WT1 gene)
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Walker-Warburg syndrome (sequence analysis of ISPD gene)
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Walker-Warburg syndrome (sequence analysis of POMT1 gene)
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Walker-Warburg syndrome (sequence analysis of POMT2 gene)
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Walker-Warburg syndrome |Congenital muscular dystrophy with mental retardation | Limb-girdle muscular dystrophies (dystroglycanopathies types A2, B2 and C2, deletion/duplication analysis on POMT2 gene)
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Warburg micro syndrome 3 (sequence analysis of RAB18 gene)
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