Genetic tests

Full name Analytes Gene panels Disease Laboratory
Ataxia telangiectasia ATM Ataxia-telangiectasia Centrum Medische Genetica - UZ Gent
Thyroid hormone receptor resistance (THRB gene) THRB Pituitary resistance to thyroid hormone, Generalized resistance to thyroid hormone Centrum Medische Genetica - UZ Brussel VUB
Multiple endocrine neoplasia type 1 and 4 (MEN1; CDKN1B genes) MEN1, CDKN1B Multiple endocrine neoplasia type 1, Multiple endocrine neoplasia type 4 Centrum Menselijke Erfelijkheid - KUL
Multiple endocrine neoplasia, type 1 and 4 MEN1, CDKN1B, AIP Multiple endocrine neoplasia type 1, Multiple endocrine neoplasia type 4 Centrum Medische Genetica - UZ Gent
Pituitary adenoma (4 genes) MEN1, AIP, CDKN1B, PRKAR1A Pituitary adenoma (4 genes) - ULG Familial isolated pituitary adenoma, Silent pituitary adenoma, Null pituitary adenoma, Multiple endocrine neoplasia type 1, Multiple endocrine neoplasia type 4, Carney complex Centre de Génétique Humaine - CHU Sart-Tilman
Multiple endocrine neoplasia (3 genes) CDKN1B, MEN1, RET Multiple endocrine neoplasia (3 genes) - UCL Multiple endocrine neoplasia type 1, Multiple endocrine neoplasia type 2B, Multiple endocrine neoplasia type 2A, Multiple endocrine neoplasia type 4 Centre de Génétique Médicale UCL
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