Genetic tests

Full name Analytes Gene panels Disease Laboratory
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
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
Familial Thoracic Aortic Aneurysm (gene panel) Familial Thoracic Aortic Aneurysm (21 genes) - UGent Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome Centrum Medische Genetica - UZ Gent
Aneurysm, Thoracic Aortic, familial (gene panel) Familial Thoracic Aortic Aneurysm (genepanel) - UZA Familial thoracic aortic aneurysm and aortic dissection Centrum Medische Genetica - UZ Antwerpen
Vitamin K antagonists toxicity or dose selection - VKORC1 genotyping (-1639G>A + 1173C>T) - Pharmacogenetics VKORC1 Vitamin K antagonists toxicity or dose selection, Prediction of toxicity or dose selection of vitamin K antagonists Centre de Génétique Médicale UCL