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
Carnitine Palmitoyltransferase type II CPT2 Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, neonatal form Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Carnitine Palmitoyl transferase type II CPT2 Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, myopathic form Centrum Medische Genetica - UZ Antwerpen
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