Genetic tests

Full name Analytes Gene panels Disease Laboratory
Neurofibromatosis type 1 / Legius syndrome (2 genes) NF1, SPRED1 Neurofibromatosis type 1, Legius syndrome Centrum Menselijke Erfelijkheid - KUL
Neurofibromatosis type I NF1 Neurofibromatosis type 1 Centre de Génétique Médicale UCL
Neurofibromatosis type 1 / Legius syndrome NF1, SPRED1 Neurofibromatosis type 1, Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion, 17q11 microdeletion syndrome, Legius syndrome Centrum Medische Genetica - UZ Gent
Craniosynostosis syndromes (Apert, Crouzon) FGFR2 Crouzon syndrome, Apert syndrome Centrum Medische Genetica - UZ Antwerpen
Craniosynostosis / Apert syndrome (hot spot mutations - exon 7) FGFR2 Apert syndrome Centre de Génétique Humaine - CHU Sart-Tilman
CYP2D6 genotyping (full gene sequencing + pseudogene and CNV analysis)- drug metabolism - Pharmacogenetics CYP2D6 Codeine toxicity, Resistance to tamoxifene, Antidepressant or antipsychotic toxicity or dose selection Centre de Génétique Médicale UCL
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)