Genetic tests

Full name Analytes Gene panels Disease Laboratory
Von Willebrand disease VWF Von Willebrand disease type 1, Von Willebrand disease type 2A, Von Willebrand disease type 2M, Von Willebrand disease type 2B, Von Willebrand disease type 2N, Von Willebrand disease type 3 Centrum Medische Genetica - UZ Antwerpen
FMR1-premutation instability FMR1 Fragile X syndrome Centrum Menselijke Erfelijkheid - KUL
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
Malformations of cortical development (235 genes) Malformations of cortical development (235 genes) - VUB Bilateral perisylvian polymicrogyria, Cobblestone lissencephaly without muscular or ocular involvement, Lissencephaly due to LIS1 mutation, Lissencephaly due to TUBA1A mutation, Lissencephaly syndrome, Norman-Roberts type, Lissencephaly type 1 due to doublecortin gene mutation, Microlissencephaly, Polymicrogyria due to TUBB2B mutation, Subcortical band heterotopia, X-linked lissencephaly with abnormal genitalia Centrum Medische Genetica - UZ Brussel VUB
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