Genetic tests

Full name Analytes Gene panels Disease Laboratory
RASopathy (gene panel) RASopathy - KUL Noonan syndrome Centrum Menselijke Erfelijkheid - KUL
Noonan syndrome (Screening PTPN11) PTPN11 Noonan syndrome, Noonan syndrome with multiple lentigines Centrum Menselijke Erfelijkheid - KUL
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
Congenital hemangioma (2 genes) GNAQ, GNA11 Familial multiple nevi flammei, Sturge-Weber syndrome, Uveal melanoma Centrum Menselijke Erfelijkheid - KUL
Diffuse gastric cancer, hereditary CDH1, CTNNA1 Hereditary diffuse gastric cancer Centrum Medische Genetica - UZ Gent
Diffuse gastric cancer (CDH1 gene) CDH1 Hereditary diffuse gastric cancer Centre de Génétique Humaine - CHU Sart-Tilman
Enzymatic dosage Pompe disease Glycogen storage disease due to acid maltase deficiency, Glycogen storage disease due to acid maltase deficiency, infantile onset, Glycogen storage disease due to acid maltase deficiency, late-onset Centrum Medische Genetica - UZ Brussel VUB