Genetic tests

Full name Analytes Gene panels Disease Laboratory
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
Septo-optic dysplasia HESX1 Septo-optic dysplasia spectrum Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Dicer1 tumor predisposition syndrome DICER1 Familial multinodular goiter, DICER1 tumor-predisposition syndrome, Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome, Malignant Sertoli-Leydig cell tumor of the ovary, Maligant granulosa cell tumor of the ovary, Gynandroblastoma Centrum Medische Genetica - UZ Gent
Charcot-Marie-Tooth type 1A / Hereditary Neuropathy with Liability to Pressure Palsies PMP22 Charcot-Marie-Tooth disease type 1A, Hereditary neuropathy with liability to pressure palsies, Charcot-Marie-Tooth disease type 1E Centrum Medische Genetica - UZ Antwerpen
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