Genetic tests

Full name Analytes Gene panels Disease Laboratory
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
Sex determining region Y SRY 45,X/46,XY mixed gonadal dysgenesis, 46,XX ovotesticular difference of sex development, 46,XX testicular difference of sex development, 46,XY complete gonadal dysgenesis, 46,XY partial gonadal dysgenesis Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Sex determining region Y SRY 45,X/46,XY mixed gonadal dysgenesis, 46,XY complete gonadal dysgenesis, 46,XX ovotesticular difference of sex development, 46,XY partial gonadal dysgenesis, 46,XX testicular difference of sex development Centre de Génétique Humaine - CHU Sart-Tilman
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
FSHR - Ovarian Hyperstimulation Syndrome FSHR Ovarian hyperstimulation syndrome, Primary ovarian failure (NON RARE IN EUROPE) Centre de Génétique Humaine - Erasme ULB