Genetic tests

Full name Analytes Gene panels Disease Laboratory
Nijmegen Breakage Syndrome NBN Nijmegen breakage syndrome Centrum Menselijke Erfelijkheid - KUL
Nijmegen breakage syndrome NBN Nijmegen breakage syndrome Centrum Medische Genetica - UZ Gent
Anterior segment dysgenesis Anterior segment dysgenesis - UGent Anterior segment developmental anomaly, Axenfeld-Rieger syndrome, Rieger anomaly Centrum Medische Genetica - UZ Gent
Lipodystrophy (2 genes) AGPAT2, BSCL2 Lipodystrophy (2 genes) - IPG Congenital generalized lipodystrophy, Severe neurodegenerative syndrome with lipodystrophy Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Congenital generalized lipodystrophy type 2 / Spastic paraplegia-17 / Hereditary motor neuronopathy type VA / Silver spastic paraplegia syndrome (hot spot mutation - p.Asn88Ser; p.Ser90; p.Arg96His) BSCL2 Autosomal dominant spastic paraplegia type 17, Severe neurodegenerative syndrome with lipodystrophy, Distal hereditary motor neuropathy type 5, Congenital generalized lipodystrophy Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Alzheimer Disease, late onset (AD2) / ApoE2, E3, and E4 isoforms APOE Alzheimer disease (NON RARE IN EUROPE) Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Alzheimer Disease, late onset (AD2) / ApoE2, E3, and E4 isoforms APOE Alzheimer disease (NON RARE IN EUROPE) Centrum Menselijke Erfelijkheid - KUL
Alzheimer Disease, late onset (AD2) / ApoE2, E3, and E4 isoforms APOE Alzheimer disease (NON RARE IN EUROPE) Centre de Génétique Humaine - CHU Sart-Tilman
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