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
Huntington disease - CAG repeat expansion HTT Huntington disease Centre de Génétique Médicale UCL
Huntington disease - CAG repeat expansion HTT Huntington disease Centrum Medische Genetica - UZ Gent
Huntington disease - CAG repeat expansion HTT Huntington disease Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Huntington disease - CAG repeat expansion HTT Huntington disease Centrum Medische Genetica - UZ Antwerpen
Huntington disease - CAG repeat expansion HTT Huntington disease Centre de Génétique Humaine - Erasme ULB
Huntington disease - HTT gene CAG repeat expansion HTT Huntington disease Centrum Medische Genetica - UZ Brussel VUB
Huntington disease - CAG repeat expansion HTT Huntington disease Centre de Génétique Humaine - CHU Sart-Tilman
Huntington disease - CAG repeat expansion HTT Huntington disease Centrum Menselijke Erfelijkheid - KUL
Homocystinuria (hot spot mutation - c.677C>T) MTHFR Homocystinuria due to methylene tetrahydrofolate reductase deficiency Centre de Génétique Humaine - CHU Sart-Tilman
Homocystinuria (hot spot mutation - c.1298A>C) MTHFR Homocystinuria due to methylene tetrahydrofolate reductase deficiency Centre de Génétique Humaine - CHU Sart-Tilman