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
Abacavir toxicity (HLA-B*57:01 genotyping) - Pharmacogenetics HLA-B Abacavir toxicity Centre de Génétique Humaine - CHU Sart-Tilman
Abacavir toxicity (HLA-B*57:01 genotyping) - Pharmacogenetics HLA-B Abacavir toxicity Centrum Medische Genetica - UZ Gent
Abacavir toxicity (HLA-B*57:01 genotyping) - Pharmacogenetics HLA-B Abacavir toxicity Centrum Medische Genetica - UZ Brussel VUB
Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 et 21 and sex chromosomes Chromosome 21, Chromosome 13, Chromosome 18 Down syndrome, Trisomy 13, Trisomy 18 Centrum Menselijke Erfelijkheid - KUL
Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 et 21 and sex chromosomes Chromosome 21, Chromosome 13, Chromosome 18 Down syndrome, Trisomy 13, Trisomy 18 Centrum Medische Genetica - UZ Gent
Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 et 21 and sex chromosomes Chromosome 21, Chromosome 13, Chromosome 18 Down syndrome, Trisomy 13, Trisomy 18 Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Rokitansky syndrome WNT4 Mayer-Rokitansky-Küster-Hauser syndrome type 1 Centre de Génétique Humaine - CHU Sart-Tilman