Genetic tests

Full name Analytes Gene panels Disease Laboratory
Sturge-Weber syndrome (gene panel) Sturge-Weber syndrome (65 genes) - KUL Sturge-Weber syndrome Centrum Menselijke Erfelijkheid - KUL
Congenital hemangioma (2 genes) GNAQ, GNA11 Familial multiple nevi flammei, Sturge-Weber syndrome, Uveal melanoma Centrum Menselijke Erfelijkheid - KUL
Neurofibromatosis type 1 / Legius syndrome NF1, SPRED1 Neurofibromatosis type 1, Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion, 17q11 microdeletion syndrome, Legius syndrome Centrum Medische Genetica - UZ Gent
Lissencephaly / subcortical band heterotopia PAFAH1B1 Lissencephaly due to LIS1 mutation, Subcortical band heterotopia Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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
Beckwith-Wiedemann syndrome (11p15 methylation) H19, KCNQ1OT1, IGF2 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15, Beckwith-Wiedemann syndrome Centrum Menselijke Erfelijkheid - KUL
Download XLSX
Download PDF