Genetic tests

Full name Analytes Gene panels Disease Laboratory
Stickler syndrome (gene panel) Stickler syndrome - UGent Stickler syndrome type 1, Stickler syndrome type 2, Autosomal dominant otospondylomegaepiphyseal dysplasia Centrum Medische Genetica - UZ Gent
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
Amyotrophic Lateral Sclerosis (ALS) (gene panel) Amyotrophic Lateral Sclerosis (ALS) - UGent Amyotrophic lateral sclerosis, Juvenile amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis type 4 Centrum Medische Genetica - UZ Gent
Amyotrophic lateral sclerosis (ALS) / Frontotemporal demention (FTD) - GGGGCC repeat expansion in C9ORF72 C9ORF72 Amyotrophic lateral sclerosis type 4, Frontotemporal dementia with motor neuron disease Centrum Medische Genetica - UZ Gent
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
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