Genetic tests

Full name Analytes Gene panels Disease Laboratory
Steinert myotonic dystrophy - CTG repeat expansion DMPK Steinert myotonic dystrophy Centrum Menselijke Erfelijkheid - KUL
Steinert myotonic dystrophy - CTG repeat expansion DMPK Steinert myotonic dystrophy Centrum Medische Genetica - UZ Gent
Steinert myotonic dystrophy - CTG repeat expansion DMPK Steinert myotonic dystrophy Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Steinert myotonic dystrophy - CTG repeat expansion DMPK Steinert myotonic dystrophy Centrum Medische Genetica - UZ Antwerpen
Steinert myotonic dystrophy - DMPK gene CTG repeat expansion DMPK Steinert myotonic dystrophy Centrum Medische Genetica - UZ Brussel VUB
Steinert myotonic dystrophy - CTG repeat expansion DMPK Steinert myotonic dystrophy Centre de Génétique Humaine - CHU Sart-Tilman
Hypophosphatasia ALPL Adult hypophosphatasia, Infantile hypophosphatasia, Odontohypophosphatasia, Perinatal lethal hypophosphatasia, Childhood-onset hypophosphatasia, Prenatal benign hypophosphatasia Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Myhre syndrome (hot spot mutation - p.I500) SMAD4 Myhre syndrome Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Porencephaly / Hemorrhagic stroke / Cerebral small vessel disease / Idiopathic cerebral white matter lesions / HANAC / Isolated retinal arteriolar tortuosity COL4A1, COL4A2 Familial porencephaly, HANAC syndrome, Retinal arterial tortuosity Centrum Medische Genetica - UZ Gent
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