Genetic tests

Full name Analytes Gene panels Disease Laboratory
Steinert myotonic dystrophy - CTG repeat expansion DMPK Steinert myotonic dystrophy Centrum Menselijke Erfelijkheid - KUL
Steinert myotonic dystrophy - CTG repeat expansion DMPK Steinert myotonic dystrophy Centrum Medische Genetica - UZ Gent
Steinert myotonic dystrophy - CTG repeat expansion DMPK Steinert myotonic dystrophy Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Steinert myotonic dystrophy - CTG repeat expansion DMPK Steinert myotonic dystrophy Centrum Medische Genetica - UZ Antwerpen
Steinert myotonic dystrophy - DMPK gene CTG repeat expansion DMPK Steinert myotonic dystrophy Centrum Medische Genetica - UZ Brussel VUB
Steinert myotonic dystrophy - CTG repeat expansion DMPK Steinert myotonic dystrophy Centre de Génétique Humaine - CHU Sart-Tilman
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
Enhanced S-Cone Syndrome NR2E3 Goldmann-Favre syndrome Centrum Medische Genetica - UZ Gent
Beckwith-Wiedemann syndrome (11p15 methylation) H19, KCNQ1OT1, IGF2 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15, Beckwith-Wiedemann syndrome Centrum Menselijke Erfelijkheid - KUL