Genetic tests

Full name Analytes Gene panels Disease Laboratory
Leber Congenital Amaurosis - Retinal dystrophy, early onset (gene panel) Leber Congenital Amaurosis - UGent Leber congenital amaurosis, Cone rod dystrophy, Retinitis pigmentosa, Senior-Loken syndrome, Severe early-childhood-onset retinal dystrophy Centrum Medische Genetica - UZ Gent
Phenylketonuria PAH Classic phenylketonuria Centre de Génétique Humaine - Erasme ULB
Hereditary angioedema type III (F12 gene - hot spot mutations - p.Thr328Lys; p. Thr328Arg) F12 F12-related hereditary angioedema with normal C1Inh Centre de Génétique Humaine - CHU Sart-Tilman
Hereditary Angioedema (7 genes) PLG, F12, SERPING1, ANGPT1, KNG1 Angioedema (7 genes) - IPG F12-related hereditary angioedema with normal C1Inh, Hereditary angioedema type 1, Hereditary angioedema type 2, PLG-related hereditary angioedema with normal C1Inh Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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)
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