Genetic tests

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Full name	Analytes	Gene panels	Disease	Laboratory
Craniosynostosis syndromes (Apert, Crouzon)	FGFR2		Crouzon syndrome, Apert syndrome	Centrum Medische Genetica - UZ Antwerpen
Craniosynostosis / Apert syndrome (hot spot mutations - exon 7)	FGFR2		Apert syndrome	Centre de Génétique Humaine - CHU Sart-Tilman
Microspherophakia / Megalocornea / primary congenital Glaucoma / Weill-Marchesani syndrome 3 recessive type	LTBP2		Weill-Marchesani syndrome, Glaucoma secondary to spherophakia/ectopia lentis and megalocornea	Centrum Medische Genetica - UZ Gent
Weill-Marchesani syndrome		Weill-Marchesani - UGent	Weill-Marchesani 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 (LIS1 gene)	PAFAH1B1		Lissencephaly due to LIS1 mutation	Centrum Medische Genetica - UZ Brussel VUB
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