Genetic tests

Full name Analytes Gene panels Disease Laboratory
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 (GGGGCC repeat expansion in the C9ORF72 gene) C9ORF72 Amyotrophic lateral sclerosis, Frontotemporal dementia with motor neuron disease, Behavioral variant of frontotemporal dementia, Huntington disease-like syndrome due to C9ORF72 expansions Centrum Menselijke Erfelijkheid - KUL
Frontotemporal lobar degeneration/ Amyotrophy Lateral Sclerosis (gene panel) Frontotemporal lobar degeneration / Amyotrophy Lateral Sclerosis (4 genes) - KUL Frontotemporal dementia with motor neuron disease, Amyotrophic lateral sclerosis Centrum Menselijke Erfelijkheid - KUL
Aniridia PAX6 Aniridia-cerebellar ataxia-intellectual disability syndrome, Isolated aniridia Centrum Medische Genetica - UZ Gent
Fragile X syndrome/POF/FXTAS - CGG repeat expansion FMR1 Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome, Symptomatic form of fragile X syndrome in female carriers Centre de Génétique Médicale UCL
Fragile X syndrome/POF/FXTAS - CGG repeat expansion FMR1 Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome, Symptomatic form of fragile X syndrome in female carriers Centrum Medische Genetica - UZ Gent
Fragile X syndrome/POF/FXTAS - CGG repeat expansion FMR1 Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome, Symptomatic form of fragile X syndrome in female carriers Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Fragile X syndrome/FXPOI/FXTAS - CGG repeat expansion FMR1 Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome, Symptomatic form of fragile X syndrome in female carriers Centrum Medische Genetica - UZ Antwerpen
Fragile X syndrome/POF/FXTAS - CGG repeat expansion FMR1 Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome, Symptomatic form of fragile X syndrome in female carriers Centre de Génétique Humaine - Erasme ULB
Fragile X syndrome/POF/FXTAS - FMR1 gene CGG repeat expansion FMR1 Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome, Symptomatic form of fragile X syndrome in female carriers, Premature Ovarian Failure Centrum Medische Genetica - UZ Brussel VUB
Fragile X syndrome and fragile X-associated disorders (FXTAS, FXPOI) FMR1 Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome, Symptomatic form of fragile X syndrome in female carriers Centre de Génétique Humaine - CHU Sart-Tilman
Fragile X syndrome/FXPOI/FXTAS - FMR1 CGG repeat expansion FMR1 Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome, Symptomatic form of fragile X syndrome in female carriers Centrum Menselijke Erfelijkheid - KUL
Achondrogenesis / Kniest dysplasia / Hypochondrogenesis COL2A1 Achondrogenesis type 2, Hypochondrogenesis, Kniest dysplasia, Multiple epiphyseal dysplasia, Beighton type, Spondyloepiphyseal dysplasia congenita, Stickler syndrome type 1 Centrum Medische Genetica - UZ Gent
Stickler syndrome (gene panel) Stickler syndrome - UGent Stickler syndrome type 1, Stickler syndrome type 2, Autosomal dominant otospondylomegaepiphyseal dysplasia Centrum Medische Genetica - UZ Gent
Stickler syndrome (gene panel) COL2A1, COL11A1, COL9A1, COL9A2 Stickler syndrome (4 genes) - UZA Stickler syndrome type 1, Stickler syndrome type 2, Autosomal recessive Stickler syndrome Centrum Medische Genetica - UZ Antwerpen
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