Genetic tests

Full name Analytes Gene panels Disease Laboratory
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
Craniosynostosis, Muenke syndrome (hot spot mutation - p.Pro250 in FGFR3 gene ) FGFR3 Muenke syndrome Centrum Medische Genetica - UZ Gent
Craniosynostosis, Muenke syndrome (hot spot mutation - p.Pro250Arg) FGFR3 Muenke syndrome Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Craniosynostosis, Muenke syndrome (hot spot mutation - p.Pro250Arg) FGFR3 Muenke syndrome Centrum Medische Genetica - UZ Antwerpen
Craniosynostosis / Muenke syndrome (hot spot mutation - p.Pro250Arg) FGFR3 Muenke syndrome Centre de Génétique Humaine - CHU Sart-Tilman
Spinocerebellar ataxia (type 13) KCNC3 Spinocerebellar ataxia type 13 Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Cholestasis, progressive familial intrahepatic (gene panel) ABCB11, ABCB4, ATP8B1, NR1H4, TJP2 Cholestasis, progressive familial intrahepatic (5 genes) - UCL Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis type 4, Progressive familial intrahepatic cholestasis type 5, Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 2 Centre de Génétique Médicale UCL
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