Genetic tests

Full name Analytes Gene panels Disease Laboratory
Kennedy disease (Spinal and bulbar muscular atrophy, SBMA) - CAG repeat expansion AR Kennedy disease Centrum Menselijke Erfelijkheid - KUL
Kennedy disease (Spinal and bulbar muscular atrophy, SBMA) - CAG repeat expansion AR Kennedy disease Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Kennedy disease (Spinal and bulbar muscular atrophy, SBMA) - CAG repeat expansion AR Kennedy disease Centrum Medische Genetica - UZ Antwerpen
Kennedy disease / Spinal and bulbar muscular atrophy (SBMA) - AR gene CAG repeat expansion AR Kennedy disease Centrum Medische Genetica - UZ Brussel VUB
Enzymatic dosage Pompe disease Glycogen storage disease due to acid maltase deficiency, Glycogen storage disease due to acid maltase deficiency, infantile onset, Glycogen storage disease due to acid maltase deficiency, late-onset Centrum Medische Genetica - UZ Brussel VUB
Pompe disease, Glycogen storage disease II (GAA gene) GAA Glycogen storage disease due to acid maltase deficiency, infantile onset, Glycogen storage disease due to acid maltase deficiency, late-onset Centrum Medische Genetica - UZ Brussel VUB
Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome FOXP3 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Centrum Menselijke Erfelijkheid - KUL
Vitelliform Macular Dystrophy BEST1, PRPH2, IMPG1, IMPG2 Best vitelliform macular dystrophy, Adult-onset foveomacular vitelliform dystrophy Centrum Medische Genetica - UZ Gent
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