Genetic tests

Full name Analytes Gene panels Disease Laboratory
Facioscapulohumeral muscular dystrophy 1A (D4Z4 repeat) FRG1 Facioscapulohumeral dystrophy Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Facioscapulohumeral Muscular Dystrophy 2 (hypomethylation D4Z4 repeats) FRG1 Facioscapulohumeral dystrophy Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Facioscapulohumeral muscular dystrophy 1A (D4Z4 repeat) FRG1 Facioscapulohumeral dystrophy Centrum Menselijke Erfelijkheid - KUL
Hereditary angioneurotic edema (2 genes) F12, SERPING1 C1 inhibitor deficiency, Hereditary angioedema type 1, Hereditary angioedema type 2 Centre de Génétique Médicale UCL
Porencephaly / Hemorrhagic stroke / Cerebral small vessel disease / Idiopathic cerebral white matter lesions / HANAC / Isolated retinal arteriolar tortuosity COL4A1, COL4A2 Familial porencephaly, HANAC syndrome, Retinal arterial tortuosity Centrum Medische Genetica - UZ Gent
Cholestasis, progressive familial intrahepatic (gene panel) ABCB11, ABCB4, ATP8B1, NR1H4, TJP2 Cholestasis, progressive familial intrahepatic (5 genes) - UCL Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis type 4, Progressive familial intrahepatic cholestasis type 5, Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 2 Centre de Génétique Médicale UCL
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