Genetic tests

Full name Analytes Gene panels Disease Laboratory
Leber Congenital Amaurosis - Retinal dystrophy, early onset (gene panel) Leber Congenital Amaurosis - UGent Leber congenital amaurosis, Cone rod dystrophy, Retinitis pigmentosa, Senior-Loken syndrome, Severe early-childhood-onset retinal dystrophy Centrum Medische Genetica - UZ Gent
Lissencephaly 3 TUBA1A Lissencephaly due to TUBA1A mutation Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Lissencephaly (Tubulin alpha 1A gene) TUBA1A Lissencephaly due to TUBA1A 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
Pituitary adenoma (4 genes) MEN1, AIP, CDKN1B, PRKAR1A Pituitary adenoma (4 genes) - ULG Familial isolated pituitary adenoma, Silent pituitary adenoma, Null pituitary adenoma, Multiple endocrine neoplasia type 1, Multiple endocrine neoplasia type 4, Carney complex Centre de Génétique Humaine - CHU Sart-Tilman
Pituitary adenoma (5 genes) AIP, CDKN1B, MEN1, RET, PRKAR1A Pituitary adenoma (5 genes) - UCL Familial isolated pituitary adenoma, Silent pituitary adenoma, Null pituitary adenoma, Prolactinoma, Pituitary gigantism, Acromegaly Centre de Génétique Médicale UCL
CYP2C9*2,*3 genotyping - drug metabolism - Pharmacogenetics CYP2C9 Vitamin K antagonists toxicity or dose selection, Oral antidiabetic drugs toxicity or dose selection Centre de Génétique Médicale UCL
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