Genetic tests

Full name Analytes Gene panels Disease Laboratory
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
Periodic paralysis (myotonia) / Paramyotonia congenita (SCN4A gene) SCN4A Hyperkalemic periodic paralysis, Hypokalemic periodic paralysis Centrum Medische Genetica - UZ Brussel VUB
Lissencephaly, X-linked / subcortical band heterotopia DCX Lissencephaly type 1 due to doublecortin gene mutation, Subcortical band heterotopia Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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
Schinzel-Giedion midface retraction syndrome SETBP1 Intellectual disability-expressive aphasia-facial dysmorphism syndrome, Schinzel-Giedion syndrome Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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