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
Ellis-van Creveld syndrome (2 genes) EVC, EVC2 Ellis-van Creveld (2 genes) - IPG Ellis Van Creveld syndrome Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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
Deafness, X-linked POU3F4 Rare mitochondrial non-syndromic sensorineural deafness, Xq21 microdeletion syndrome Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Maternally inherited deafness MT-TS1 Rare mitochondrial non-syndromic sensorineural deafness, MELAS Centrum Medische Genetica - UZ Brussel VUB