Genetic tests

Full name Analytes Gene panels Disease Laboratory
Facioscapulohumeral muscular dystrophy 1A (D4Z4 repeat) FRG1 Facioscapulohumeral dystrophy Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Facioscapulohumeral Muscular Dystrophy 2 (hypomethylation D4Z4 repeats) FRG1 Facioscapulohumeral dystrophy Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Facioscapulohumeral muscular dystrophy 1A (D4Z4 repeat) FRG1 Facioscapulohumeral dystrophy Centrum Menselijke Erfelijkheid - KUL
Long chain 3-hydroxyl-CoA dehydrogenase deficiency (hot spot mutation - p.Glu510Gln) HADHA Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Achondrogenesis / Kniest dysplasia / Hypochondrogenesis COL2A1 Achondrogenesis type 2, Hypochondrogenesis, Kniest dysplasia, Multiple epiphyseal dysplasia, Beighton type, Spondyloepiphyseal dysplasia congenita, Stickler syndrome type 1 Centrum Medische Genetica - UZ Gent
Hereditary angioneurotic edema (2 genes) F12, SERPING1 C1 inhibitor deficiency, Hereditary angioedema type 1, Hereditary angioedema type 2 Centre de Génétique Médicale UCL
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)
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