Genetic tests

Full name Analytes Gene panels Disease Laboratory
Sex determining region Y SRY 45,X/46,XY mixed gonadal dysgenesis, 46,XX ovotesticular difference of sex development, 46,XX testicular difference of sex development, 46,XY complete gonadal dysgenesis, 46,XY partial gonadal dysgenesis Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Sex determining region Y SRY 45,X/46,XY mixed gonadal dysgenesis, 46,XY complete gonadal dysgenesis, 46,XX ovotesticular difference of sex development, 46,XY partial gonadal dysgenesis, 46,XX testicular difference of sex development Centre de Génétique Humaine - CHU Sart-Tilman
Torsion dystonia 1 (DYT1) (hotspot mutation - c.907_909 delGAG) TOR1A Early-onset generalized limb-onset dystonia Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Torsion dystonia 1 (DYT1) (hot spot mutation - c.907_909delGAG) TOR1A Early-onset generalized limb-onset dystonia Centrum Menselijke Erfelijkheid - KUL
Torsion dystonia 1 (hot spot mutation - c.907_909delGAG) TOR1A Early-onset generalized limb-onset dystonia Centre de Génétique Humaine - Erasme ULB
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
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