Genetic tests

Full name Analytes Gene panels Disease Laboratory
Temple syndrome / Kagami-Ogata Syndrome DLK1, MEG3, RTL1 Temple syndrome due to maternal uniparental disomy of chromosome 14, Temple syndrome due to paternal 14q32.2 hypomethylation, Temple syndrome due to paternal 14q32.2 microdeletion, Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14, Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation, Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion Centre de Génétique Médicale UCL
Pulmonary Fibrosis (gene panel) + rs35705950 of MUC5B gene Pulmonary Fibrosis (21 genes) + rs35705950 (MUC5B gene) - KUL Idiopathic pulmonary fibrosis Centrum Menselijke Erfelijkheid - KUL
Cystic Fibrosis / Congenital absence of the vas deferens / CFTR-related disorders (50 hot spot mutations) CFTR Cystic fibrosis, Congenital bilateral absence of vas deferens, Idiopathic pulmonary fibrosis, Hereditary chronic pancreatitis Centrum Medische Genetica - UZ Antwerpen
Spinocerebellar ataxia (SCA) types 8, 10, 12, 17 - repeat expansion ATXN8, ATXN10, PPP2R2B, TBP Spinocerebellar ataxia (type 8, 10, 12, 17) (4 genes) - UZA Spinocerebellar ataxia type 8, Spinocerebellar ataxia type 10, Spinocerebellar ataxia type 12, Spinocerebellar ataxia type 17 Centrum Medische Genetica - UZ Antwerpen
Hemophilia B F9 Hemophilia B, Severe hemophilia B, Moderate hemophilia B, Mild hemophilia B, Bleeding disorder in hemophilia B carriers Centre de Génétique Médicale UCL
Hemophilia B F9 Hemophilia B, Severe hemophilia B, Moderate hemophilia B, Mild hemophilia B, Bleeding disorder in hemophilia B carriers Centrum Menselijke Erfelijkheid - KUL
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