Genetic tests

Full name Analytes Gene panels Disease Laboratory
Waardenburg syndrome (gene panel) EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10 Waardenburg syndrome (6 genes) - UZA Waardenburg syndrome type 1, Waardenburg syndrome type 2, Waardenburg syndrome type 3, Waardenburg-Shah syndrome Centrum Medische Genetica - UZ Antwerpen
Arteriovenous malformation (gene panel) Arteriovenous malformation (7 genes), Vascular malformations (germline) (38 genes) - UCL Hereditary hemorrhagic telangiectasia, Heritable pulmonary arterial hypertension, Familial cerebral saccular aneurysm, Vein of Galen aneurysmal malformation, Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome, Capillary malformation-arteriovenous malformation, Parkes Weber syndrome, Microcephaly-capillary malformation syndrome Centre de Génétique Médicale UCL
Capillary malformation – microcephaly STAMBP Microcephaly-capillary malformation syndrome Centre de Génétique Médicale UCL
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome (TANGO2 gene) TANGO2 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome Centrum Medische Genetica - UZ Brussel VUB
Becker muscular dystrophy / Duchenne muscular dystrophy (deletion/duplication DMD gene) DMD Duchenne muscular dystrophy, Becker muscular dystrophy, Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers Centrum Menselijke Erfelijkheid - KUL
Becker muscular dystrophy / Duchenne muscular dystrophy (deletion/duplication DMD gene) DMD Duchenne muscular dystrophy, Becker muscular dystrophy, Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Becker muscular dystrophy / Duchenne muscular dystrophy (deletion/duplication DMD gene) DMD Duchenne muscular dystrophy, Becker muscular dystrophy, Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers Centrum Medische Genetica - UZ Antwerpen
Becker muscular dystrophy / Duchenne muscular dystrophy (Full sequencing DMD gene through Myopathy gene panel) DMD Duchenne muscular dystrophy, Becker muscular dystrophy, Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers Centrum Medische Genetica - UZ Antwerpen
Becker muscular dystrophy / Duchenne muscular dystrophy (deletion/duplication DMD gene) DMD Duchenne muscular dystrophy, Becker muscular dystrophy, Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers Centre de Génétique Humaine - CHU Sart-Tilman
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