Genetic tests

Full name Analytes Gene panels Disease Laboratory
Aniridia PAX6 Aniridia-cerebellar ataxia-intellectual disability syndrome, Isolated aniridia Centrum Medische Genetica - UZ Gent
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
Pompe disease, Glycogen storage disease II (GAA gene) GAA 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
Hypogonadotropic hypogonadism (33 genes) Hypogonadotropic hypogonadism (33 genes) - VUB Normosmic congenital hypogonadotropic hypogonadism Centrum Medische Genetica - UZ Brussel VUB
Kallmann syndrome / Hypogonadotropic Hypogonadism (FGFR1 gene) FGFR1 Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism 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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