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Macrocephaly (NGS panel for 16 genes)
+ info
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Macrocephaly, dysmorphic facies, and psychomotor retardation (sequence analysis of HERC1 gene)
+ info
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Macrosomic syndromes (WES based NGS panel of 35 genes, including CNV analysis)
+ info
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Macular corneal dystrophy (sequence analysis of CHST6 gene)
+ info
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Macular dystrophy (sequence analysis of PRPH2 gene)
+ info
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Macular dystrophy vitelliform (deletion/duplication analysis on BEST1 and PRPH2 genes)
+ info
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Macular Dystrophy Vitelliform (sequence analysis of BEST1 and PRPH2 genes)
+ info
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Macular dystrophy vitelliform (sequence analysis of BEST1 gene)
+ info
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Macular dystrophy vitelliform 4 (sequence analysis of IMPG1 gene)
+ info
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Majeed syndrome (sequence analysis of LPIN2 gene)
+ info
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Male Infertility (WES based NGS panel of 116 gene, including CNV analysis)
+ info
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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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Malignant hyperthermia (deletion/duplication in the RYR1 gene)
+ info
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Malignant hyperthermia (NGS panel of 3 genes)
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Malignant hyperthermia susceptibility (sequence analysis of RYR1 gene)
+ info
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Malonyl-CoA decarboxylase deficiency (sequence analysis of MLYCD gene)
+ info
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Mandibuloacral dysplasia with type B lipodystrophy (sequence analysis of ZMPSTE24 gene)
+ info
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Mandibulofacial dysostosis with microcephaly (sequence analysis of EFTUD2 gene)
+ info
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Mannose-binding protein deficiency (sequence analysis of MBL2 gene)
+ info
