Genetic tests

Full name Analytes Gene panels Disease Laboratory
Blepharophimosis type I /II FOXL2 Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome, Blepharophimosis-epicanthus inversus-ptosis due to copy number variations Centrum Medische Genetica - UZ Gent
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
Cholestasis, intrahepatic (2 genes among ATP8B1, ABCB11, ABCB4) ATP8B1, ABCB11, ABCB4 Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 3, Intrahepatic cholestasis of pregnancy Centre de Génétique Humaine - CHU Sart-Tilman
Cholestasis, intrahepatic (1 gene among ATP8B1, ABCB11,ABCB4) ATP8B1, ABCB11, ABCB4 Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 3, Intrahepatic cholestasis of pregnancy Centre de Génétique Humaine - CHU Sart-Tilman