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
Hyperthyroidism ( familial gestational or familial nonautoimmune, hypothyroidism, thyrotropin) - TSHR TSHR Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations, Familial gestational hyperthyroidism Centre de Génétique Humaine - Erasme ULB
Medium chain acyl-CoA dehydrogenase deficiency (MCAD hot spot mutation - p.Lys329Glu) ACADM Medium chain acyl-CoA dehydrogenase deficiency Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Medium chain acyl-CoA dehydrogenase deficiency (MCAD-ACADM) ACADM Medium chain acyl-CoA dehydrogenase deficiency Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Medium chain acyl-CoA dehydrogenase deficiency (MCAD-ACADM gene) ACADM Medium chain acyl-CoA dehydrogenase deficiency Centrum Medische Genetica - UZ Brussel VUB
Medium chain acyl-CoA dehydrogenase deficiency (MCAD hot spot mutation - p.Lys329Glu) ACADM Medium chain acyl-CoA dehydrogenase deficiency Centre de Génétique Humaine - CHU Sart-Tilman
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