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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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Ulna and fibula, absence of, with severe limb deficiency (sequence analysis of WNT7A gene)
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Ulnar-mammary syndrome (sequence analysis of TBX3 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)
+ info
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Unverricht-Lundborg disease (sequence analysis of CSTB gene)
+ info
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Urbach-Wiethe disease (deletion/duplication analysis of ECM1 gene)
+ info
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Urbach-Wiethe disease (sequence analysis of ECM1 gene)
+ info
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Urocanase deficiency (sequence analysis of UROC1 gene)
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Urofacial syndrome (NGS panel of 2 genes)
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Urofacial syndrome 2 (sequence analysis of LRIG2 gene)
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Usher syndrome type 1B (deletion/duplication analysis on MYO7A gene)
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Usher syndrome type 1B | Non-syndromic sensorineural deafness (sequence analysis of MYO7A gene)
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Usher syndrome type 1D/F (deletion/duplication analysis on PCDH15 gene)
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Usher syndrome type 1D/F (sequence analysis of CDH23 gene)
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Usher syndrome type 1D/F (sequence analysis of PCDH15 gene)
+ info
