Genetic tests

Full name Analytes Gene panels Disease Laboratory
Bile Acid Synthesis Congenital Defect (gene panel) AKR1D1, AMACR, CYP7B1, HSD3B7, CYP27A1 Bile Acid Synthesis Congenital Defect (5 genes) - UCL Congenital bile acid synthesis defect type 2, Congenital bile acid synthesis defect type 4, Cerebrotendinous xanthomatosis, Congenital bile acid synthesis defect type 3, Congenital bile acid synthesis defect type 1 Centre de Génétique Médicale UCL
Prostate cancer (gene panel) Prostate cancer - UGent Familial prostate cancer Centrum Medische Genetica - UZ Gent
Prostate cancer susceptibility (HOXB13 - hot spot mutation p.(Gly84Glu)) HOXB13 Familial prostate cancer Centre de Génétique Humaine - CHU Sart-Tilman
Prostate cancer HOXB13 Familial prostate cancer Centre de Génétique Médicale UCL
Neurodevelopmental disorders gene panel Neurodevelopmental disorders: developmental delay, intellectual disability, autistic disorders (1162 genes) - VUB Infantile neuroaxonal dystrophy 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
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