Genetic tests

Full name Analytes Gene panels Disease Laboratory
Silver-Russell syndrome 11p15.5, 7p12.1, 7q32.2 Silver-Russell syndrome, Silver-Russell syndrome due to an imprinting defect of 11p15, Silver-Russell syndrome due to 11p15 microduplication Centre de Génétique Médicale UCL
Uniparental disomy 7p12.1, 7q32.2 Silver-Russell syndrome Centre de Génétique Médicale UCL
Cardiomyopathy, hereditary (gene panel) Cardiomyopathy, hereditary (208 genes) - VUB Familial isolated arrhythmogenic ventricular dysplasia, biventricular form, Familial isolated arrhythmogenic ventricular dysplasia, left dominant form, Familial isolated arrhythmogenic ventricular dysplasia, right dominant form, Familial isolated dilated cardiomyopathy, Familial isolated restrictive cardiomyopathy, Left ventricular noncompaction Centrum Medische Genetica - UZ Brussel VUB
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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