Neurology / Neuropediatrics
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Tuberous sclerosis 1 (sequencing and CNV analyses of TSC1 gene)
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Tuberous sclerosis 1 and 2 (sequencing and CNV analyses of TSC1 and TSC2 genes)
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Tuberous sclerosis 2 (deletion/duplication analysis on TSC2 gene)
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Tyrosinemia type II (sequence analysis of TAT gene)
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Tyrosinemia type III (sequence analysis of HPD gene)
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uccinic semialdehyde dehydrogenase deficiency (deletion/duplication analysis on ALDH5A1 gene)
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Ullrich congenital muscular dystrophy (NGS panel for 3 genes)
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Ullrich congenital muscular dystrophy (sequence analysis of COL6A1 gene)
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Ullrich congenital muscular dystrophy (sequence analysis of COL6A2 gene)
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Ullrich congenital muscular dystrophy (sequence analysis of COL6A3 gene)
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Uniparental disomy of chromosome 7 (MS-MLPA)
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Unverricht-Lundborg disease (detection of expansion on CSTB gene)
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Unverricht-Lundborg disease (sequence analysis of CSTB gene)
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Urocanase deficiency (sequence analysis of UROC1 gene)
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Usher syndrome type 1B (sequence analysis of MYO7A gene)
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Usher syndrome type 2C | Familiar epilepsy with febrile seizures, type 4 (sequence analysis of ADGRV1 gene)
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Van Buchem disease (sequence analysis of SOST gene)
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Variant Rett Syndrome | Early infantile epileptic encephalopathy (sequence analysis of CDKL5 gene)
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Vitamin B12 Deficiency (NGS panel of 20 genes)
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Vitamin D-dependent rickets type I (sequence analysis of CYP27B1 gene)
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