Genetic tests |

Full name	Analytes	Gene panels	Disease	Laboratory
Torsion dystonia 1 (DYT1) (hotspot mutation - c.907_909 delGAG)	TOR1A		Early-onset generalized limb-onset dystonia	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Torsion dystonia 1 (DYT1) (hot spot mutation - c.907_909delGAG)	TOR1A		Early-onset generalized limb-onset dystonia	Centrum Menselijke Erfelijkheid - KUL
Torsion dystonia 1 (hot spot mutation - c.907_909delGAG)	TOR1A		Early-onset generalized limb-onset dystonia	Centre de Génétique Humaine - Erasme ULB
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
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