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
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
Alzheimer Disease, late onset (AD2) / ApoE2, E3, and E4 isoforms APOE Alzheimer disease (NON RARE IN EUROPE) Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Alzheimer Disease, late onset (AD2) / ApoE2, E3, and E4 isoforms APOE Alzheimer disease (NON RARE IN EUROPE) Centrum Menselijke Erfelijkheid - KUL
Alzheimer Disease, late onset (AD2) / ApoE2, E3, and E4 isoforms APOE Alzheimer disease (NON RARE IN EUROPE) Centre de Génétique Humaine - CHU Sart-Tilman