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Laboratory
Hallervorden-Spatz disease (Neurodegeneration with brain iron accumulation type 1) / HARP syndrome (Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis pigmentosa, and Pallidal degeneration)
PANK2
Classic pantothenate kinase-associated neurodegeneration
,
Atypical pantothenate kinase-associated neurodegeneration
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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
Primary familial erythrocytosis or Primary familial congenital polycythemia
EPOR
Primary familial polycythemia
Centre de Génétique Humaine - CHU Sart-Tilman
Uniparental Disomy (UDP7; UDP11; UDP14; UDP15; UDP16)
Paternal uniparental disomy of chromosome 7
,
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
,
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
,
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
,
Temple syndrome due to maternal uniparental disomy of chromosome 14
,
Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
,
Angelman syndrome due to paternal uniparental disomy of chromosome 15
,
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
,
Maternal uniparental disomy of chromosome 16
Centrum Medische Genetica - UZ Gent
Uniparental Disomy (UDP7; UDP11; UDP14; UDP20)
Paternal uniparental disomy of chromosome 7
,
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
,
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
,
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
,
Temple syndrome due to maternal uniparental disomy of chromosome 14
,
Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
Centrum Menselijke Erfelijkheid - KUL
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