Obstetrics / Gynecology /PND
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Male Infertility (WES based NGS panel of 116 gene)
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Male infertility panel (Y Chromosome microdeletions and Cystic fibrosis (frequent mutations of CFTR gene))
+ info
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Malformations of cortical development (lissencephaly, periventricular nodular heterotopia, polymicrogyria, megalencephaly-polymicrogyria and dysplastic megalencephaly) (NGS panel of 66 genes)
+ info
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Meckel syndrome 10 (sequence analysis of B9D2 gene)
+ info
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Meckel syndrome 2 (sequence analysis of TMEM216 gene)
+ info
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Meckel syndrome 5 (sequence analysis of RPGRIP1L gene)
+ info
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Meckel syndrome 7 (sequence analysis of NPHP3 gene)
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Meckel syndrome 8 (sequence analysis of TCTN2 gene)
+ info
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Meckel syndrome 9 (sequence analysis of B9D1 gene)
+ info
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Meckel syndrome type 6 (sequence analysis of CC2D2A gene)
+ info
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Meckel syndrome type I (sequence analysis of MKS1 gene)
+ info
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Muenke syndrome (Pro250Arg mutation on FGFR3 gene)
+ info
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Mullerian aplasia and hyperandrogenism (sequence analysis of WNT4 gene)
+ info