Genetic tests

Full name Analytes Gene panels Disease Laboratory
Von Willebrand disease VWF Von Willebrand disease type 1, Von Willebrand disease type 2A, Von Willebrand disease type 2M, Von Willebrand disease type 2B, Von Willebrand disease type 2N, Von Willebrand disease type 3 Centrum Medische Genetica - UZ Antwerpen
Achondroplasia (hot spot mutation - p.Glu380Arg in FGFR3 gene) FGFR3 Achondroplasia Centrum Medische Genetica - UZ Gent
Achondroplasia (hot spot mutation - p.Gly380) FGFR3 Achondroplasia Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Achondroplasia (hot spot mutation - p.Gly380) FGFR3 Achondroplasia Centrum Medische Genetica - UZ Antwerpen
Achondroplasia (hot spot mutation - p.Gly380) FGFR3 Achondroplasia Centre de Génétique Humaine - Erasme ULB
Achondroplasia (FGFR3 hot spot mutation - p.Gly380) FGFR3 Achondroplasia Centrum Medische Genetica - UZ Brussel VUB
Achondroplasia (hot spot mutation - p.Gly380Arg) FGFR3 Achondroplasia Centre de Génétique Humaine - CHU Sart-Tilman
Primary lymphedema / fetal hydrops (gene panel) Lymphedema / fetal hydrops (27 genes) - UCL, Vascular malformations (germline) (38 genes) - UCL Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome, Cardiofaciocutaneous syndrome, Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome, Noonan syndrome, Oculodentodigital dysplasia, Microcephaly-lymphedema-chorioretinopathy syndrome, Milroy disease, Lymphedema-distichiasis syndrome, Lymphedema-posterior choanal atresia syndrome, Hennekam syndrome, Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, Lymphangioleiomyomatosis Centre de Génétique Médicale UCL
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