Genetic tests

Full name Analytes Gene panels Disease Laboratory
Mc Ardle disease, glycogene storage disease type V PYGM Glycogen storage disease due to muscle glycogen phosphorylase deficiency Centre de Génétique Humaine - CHU Sart-Tilman
Waardenburg syndrome (gene panel) EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10 Waardenburg syndrome (6 genes) - UZA Waardenburg syndrome type 1, Waardenburg syndrome type 2, Waardenburg syndrome type 3, Waardenburg-Shah syndrome Centrum Medische Genetica - UZ Antwerpen
Huntington disease - CAG repeat expansion HTT Huntington disease Centre de Génétique Médicale UCL
Huntington disease - CAG repeat expansion HTT Huntington disease Centrum Medische Genetica - UZ Gent
Huntington disease - CAG repeat expansion HTT Huntington disease Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Huntington disease - CAG repeat expansion HTT Huntington disease Centrum Medische Genetica - UZ Antwerpen
Huntington disease - CAG repeat expansion HTT Huntington disease Centre de Génétique Humaine - Erasme ULB
Huntington disease - HTT gene CAG repeat expansion HTT Huntington disease Centrum Medische Genetica - UZ Brussel VUB
Huntington disease - CAG repeat expansion HTT Huntington disease Centre de Génétique Humaine - CHU Sart-Tilman
Huntington disease - CAG repeat expansion HTT Huntington disease Centrum Menselijke Erfelijkheid - KUL
Alzheimer disease (gene panel) APP, PSEN1, PSEN2, APOE Early-onset autosomal dominant Alzheimer disease, Behavioral variant of frontotemporal dementia, Semantic dementia, Progressive non-fluent aphasia Centre de Génétique Humaine - Erasme ULB