Genetic tests

Full name Analytes Gene panels Disease Laboratory
Familial Mediterranean Fever MEFV Familial Mediterranean fever Centre de Génétique Humaine - CHU Sart-Tilman
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
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
Congenital generalized lipodystrophy type 2 / Spastic paraplegia-17 / Hereditary motor neuronopathy type VA / Silver spastic paraplegia syndrome (hot spot mutation - p.Asn88Ser; p.Ser90; p.Arg96His) BSCL2 Autosomal dominant spastic paraplegia type 17, Severe neurodegenerative syndrome with lipodystrophy, Distal hereditary motor neuropathy type 5, Congenital generalized lipodystrophy Centre de Génétique-Institut de Pathologie et de Génétique (IPG)