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Laboratory
Periodic paralysis (myotonia) / Paramyotonia congenita (SCN4A gene)
SCN4A
Hyperkalemic periodic paralysis
,
Hypokalemic periodic paralysis
Centrum Medische Genetica - UZ Brussel VUB
Cardiomyopathy, hypertrophic
Hypertrophic cardiomyopathy - UGent
Familial isolated dilated cardiomyopathy
Centrum Medische Genetica - UZ Gent
Cardiomyopathy: hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, left ventricular non-compaction cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy (gene panel)
Cardiomyopathy (genepanel) - UZA
Familial isolated dilated cardiomyopathy
,
Familial isolated restrictive cardiomyopathy
,
Left ventricular noncompaction
,
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Centrum Medische Genetica - UZ Antwerpen
Cardiomyopathy, hereditary (gene panel)
Cardiomyopathy, hereditary (208 genes) - VUB
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
,
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
,
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
,
Familial isolated dilated cardiomyopathy
,
Familial isolated restrictive cardiomyopathy
,
Left ventricular noncompaction
Centrum Medische Genetica - UZ Brussel VUB
Temple syndrome / Kagami-Ogata Syndrome
DLK1
,
MEG3
,
RTL1
Temple syndrome due to maternal uniparental disomy of chromosome 14
,
Temple syndrome due to paternal 14q32.2 hypomethylation
,
Temple syndrome due to paternal 14q32.2 microdeletion
,
Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
,
Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
,
Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
Centre de Génétique Médicale UCL
Spinocerebellar ataxia (types 1, 2, 3, 6, 7) - CAG repeat expansion
ATXN1
,
ATXN2
,
ATXN3
,
CACNA1A
,
ATXN7
Spinocerebellar ataxia (types 1, 2, 3, 6, 7) (5 genes) - KUL
Spinocerebellar ataxia type 1
,
Spinocerebellar ataxia type 2
,
Machado-Joseph disease type 3
,
Spinocerebellar ataxia type 6
,
Spinocerebellar ataxia type 7
Centrum Menselijke Erfelijkheid - KUL
Spinocerebellar ataxia (types 1, 2, 3, 6, 7, 17) - CAG repeat expansion
ATXN1
,
ATXN2
,
ATXN3
,
CACNA1A
,
ATXN7
,
TBP
Spinocerebellar ataxia (types 1, 2, 3, 6, 7, 17) (6 genes) - IPG
Spinocerebellar ataxia type 1
,
Spinocerebellar ataxia type 2
,
Machado-Joseph disease type 3
,
Spinocerebellar ataxia type 6
,
Spinocerebellar ataxia type 7
,
Spinocerebellar ataxia type 17
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Spinocerebellar ataxia (SCA) types 1, 2, 3, 6, 7 - CAG repeat expansion
ATXN1
,
ATXN2
,
ATXN3
,
CACNA1A
,
ATXN7
Spinocerebellar ataxia (types 1, 2, 3, 6, 7) (5 genes) - UZA
Spinocerebellar ataxia type 1
,
Spinocerebellar ataxia type 2
,
Machado-Joseph disease type 3
,
Spinocerebellar ataxia type 6
,
Spinocerebellar ataxia type 7
Centrum Medische Genetica - UZ Antwerpen
Spinocerebellar ataxia (types 1, 2, 3, 6, 7) - CAG repeat expansion
ATXN1
,
ATXN2
,
ATXN3
,
CACNA1A
,
ATXN7
Spinocerebellar ataxia (types 1, 2, 3, 6, 7) (5 genes) - VUB
Spinocerebellar ataxia type 1
,
Spinocerebellar ataxia type 2
,
Machado-Joseph disease type 3
,
Spinocerebellar ataxia type 6
,
Spinocerebellar ataxia type 7
Centrum Medische Genetica - UZ Brussel VUB
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