Neurology / Neuropediatrics
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C syndrome (deletion/duplication analysis of CD96 gene)
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C syndrome (sequence analysis of CD96 gene)
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CACH syndrome / Leukoencephalopathy with Vanishing White Matter (NGS panel of 5 genes)
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CACH syndrome/Leukoencephalopathy with vanishing white matter (deletion/duplication analysis of EIF2B4 gene)
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CADASIL (sequence analysis of exons 2-6 and 11 of NOTCH3 gene)
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CADASIL | Myofibromatosis, infantile 2 | Lateral meningocele syndrome (sequence analysis of NOTCH3 gene)
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Canavan disease (deletion/duplication analysis on ASPA gene)
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Canavan disease (sequence analysis of ASPA gene)
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CANVAS syndrome (sequence analysis of ELF2 gene)
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Capillary malformations, congenital (mutation p. Arg183GIn on GNAQ gene)
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Capillary malformations, congenital | Sturge-Weber syndrome (somatic mutations of GNAQ gene)
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CARASIL syndrome (deletion/duplication analysis on HTRA1 gene)
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CARASIL syndrome (sequence analysis of HTRA1 gene)
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Cardiofaciocutaneous syndrome (sequence analysis of BRAF gene)
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Cardiofaciocutaneous syndrome (sequence analysis of MAP2K1 gene)
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Cardiofaciocutaneous syndrome 4 (sequence analysis of MAP2K2 gene)
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Carney complex type 1 | Acrodysostosis (sequence analysis of PRKAR1A gene)
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Carnitine palmitoyltransferase IA deficiency (deletion/duplication analysis on CPT1A gene)
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Carnitine palmitoyltransferase IA deficiency (sequence analysis of CPT1A gene)
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Carnitine palmitoyltransferase II deficiency (deletion/duplication analysis on CPT2 gene)
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