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Saethre-Chotzen syndrome (deletion/duplication analysis on TWIST1 gene)
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Salla disease (sequence analysis of SLC17A5 gene)
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Sanjad-Sakati syndrome | Kenny-Caffey syndrome (deletion/duplication analysis on TBCE gene)
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Sanjad-Sakati syndrome | Kenny-Caffey syndrome (sequence analysis of TBCE gene)
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Sarcoglycanopathies (NGS panel of 5 genes)
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Scalp-ear-nipple syndrome (sequence analysis of KCTD1 gene)
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Scapuloperoneal syndrome, neurogenic, Kaeser type | Myopathy, myofibrillar, 1 | Cardiomyopathy, dilated, 1I (deletion/duplication analysis of DES gene)
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Schaaf-Yang syndrome (deletion/duplication analysis of MAGEL2 gene)
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Schaaf-Yang syndrome (sequence analysis of MAGEL2 gene)
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Schimke immunoosseous dysplasia (sequece analysis of SMARCAL1 gene)
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Schinzel-Giedion syndrome (sequence analysis of SETBP1 gene)
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Schizencephaly (sequence analysis of EMX2 gene)
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Schizophrenia susceptibility | Amyotrophic lateral sclerosis susceptibility (sequence analysis of DAO gene)
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Schneckenbecken dysplasia (sequence analysis of SLC35D1 gene)
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Schnyder corneal dystrophy (sequence analysis of UBIAD1 gene)
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Schwannomatose | Noonan syndrome 10 (deletion/duplication analysis on LZTR1 gene)
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Schwannomatosis (deletion/duplication analysis of SMARCB1 gene)
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Schwannomatosis (sequence analysis of LZTR1 gene)
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Schwartz-Jampel syndrome type 1 (sequence analysis of HSPG2 gene)
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Schwartz-Jampel syndrome types 1 and 2 (NGS panel for 2 genes)
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