Genetic tests

Full name Analytes Gene panels Disease Laboratory
Craniosynostosis syndromes (Apert, Crouzon) FGFR2 Crouzon syndrome, Apert syndrome Centrum Medische Genetica - UZ Antwerpen
Craniosynostosis / Apert syndrome (hot spot mutations - exon 7) FGFR2 Apert syndrome Centre de Génétique Humaine - CHU Sart-Tilman
Beckwith-Wiedemann syndrome 11p15.5 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15, Beckwith-Wiedemann syndrome due to 11p15 microdeletion Centre de Génétique Médicale UCL
Charcot-Marie-Tooth type 1A / Hereditary Neuropathy with Liability to Pressure Palsies PMP22 Charcot-Marie-Tooth disease type 1A, Hereditary neuropathy with liability to pressure palsies Centrum Medische Genetica - UZ Gent
Charcot-Marie-Tooth type 1A (CMT1A) / Hereditary Neuropathy with Liability to Pressure Palsies PMP22 Charcot-Marie-Tooth disease type 1A, Hereditary neuropathy with liability to pressure palsies Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Charcot-Marie-Tooth type 1A / Hereditary Neuropathy with Liability to Pressure Palsies PMP22 Charcot-Marie-Tooth disease type 1A, Hereditary neuropathy with liability to pressure palsies, Charcot-Marie-Tooth disease type 1E Centrum Medische Genetica - UZ Antwerpen
Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) PMP22 Charcot-Marie-Tooth disease type 1A, Hereditary neuropathy with liability to pressure palsies Centre de Génétique Humaine - Erasme ULB
Charcot-Marie-Tooth type 1A (CMT1A) / Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) PMP22 Charcot-Marie-Tooth disease type 1A, Dejerine-Sottas syndrome, Hereditary neuropathy with liability to pressure palsies Centrum Menselijke Erfelijkheid - KUL
Charcot-Marie-Tooth type 1A / Hereditary Neuropathy with Liability to Pressure Palsies PMP22 Charcot-Marie-Tooth disease type 1A, Hereditary neuropathy with liability to pressure palsies Centre de Génétique Humaine - CHU Sart-Tilman
Charcot-Marie-Tooth (CMT1A, GJB1) GJB1, PMP22 X-linked Charcot-Marie-Tooth disease type 1, Charcot-Marie-Tooth disease type 1A Centre de Génétique Humaine - Erasme ULB
FRMD7-related infantile nystagmus / Nystagmus, infantile periodic alternating, X-linked FRMD7 Nystagmus, infantile periodic alternating, X-linked Centrum Medische Genetica - UZ Gent