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
Atypical Hemolytic Uremic Syndrome (aHUS) (gene panel) Atypical Hemolytic Uremic Syndrome (aHUS) and Complement disorders (17 genes) - IPG Hemolytic uremic syndrome with DGKE deficiency, Atypical hemolytic uremic syndrome with anti-factor H antibodies, Atypical hemolytic uremic syndrome with complement gene abnormality, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Atypical hemolytic-uremic syndrome with B factor anomaly, Atypical hemolytic-uremic syndrome with H factor anomaly, Atypical hemolytic-uremic syndrome with C3 anomaly, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome with I factor anomaly Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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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