Neurology / Neuropediatrics
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D-2-hydroxyglutaric aciduria (deletion/duplication analysis on D2HGDH gene)
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D-2-hydroxyglutaric aciduria (sequence analysis of D2HGDH gene)
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D-2-hydroxyglutaric aciduria 2 (sequence analysis of IDH2 gene)
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Danon disease (sequence analysis of LAMP2 gene)
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Deafness, autosomal recessive 86 and autosomal dominant 65 | Myoclonic epilepsy, infantile, familial | Epileptic encephalopathy 16 |DOORS syndrome (deletion/duplication analysis on TBC1D24 gene)
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Deficiency of glycosylphosphatidylinositol (sequencing of the PIGM gene)
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Deficiency of guanidinoacetate methyltransferase (deletion /duplication of the GAMT gene)
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Deletion/duplication analysis on mitochondrial DNA
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Dementia with Lewy bodies (deletion/duplication analysis on SNCA gene)
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Dementia with Lewy bodies (sequence analysis of SNCA gene)
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Dementia with Lewy body (sequence analysis of SNCB gene)
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Dentatorubral-pallidoluysian atrophy (DRPLA, CAG repeat expansion on ATN1 gene)
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Desminopathy (sequence analysis of DES gene)
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Detection by FISH of Cri-du-chat syndrome
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Detection by FISH of Down Syndrome
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Detection by FISH of Miller-Dieker syndrome
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Detection by FISH of MYCN
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Detection by FISH of Prader-Willi/Angelman syndromes (15q11.2)
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Detection by FISH of Smith-Magenis syndrome
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Detection by FISH of Wolf-Hirschhorn syndrome
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