Genetic tests

Full name Analytes Gene panels Disease Laboratory
Dyskeratosis Congenita (gene panel) Dyskeratosis Congenita (18 genes) - KUL Dyskeratosis congenita Centrum Menselijke Erfelijkheid - KUL
Sturge-Weber syndrome (gene panel) Sturge-Weber syndrome (65 genes) - KUL Sturge-Weber syndrome Centrum Menselijke Erfelijkheid - KUL
Congenital hemangioma (2 genes) GNAQ, GNA11 Familial multiple nevi flammei, Sturge-Weber syndrome, Uveal melanoma Centrum Menselijke Erfelijkheid - KUL
ACTH-independent macronodular adrenal hyperplasia 2 / Cushing syndrome ARMC5 Cushing syndrome due to bilateral macronodular adrenocortical disease Centre de Génétique Médicale UCL
Capillary malformation - arteriovenous malformation (2 genes) RASA1, EPHB4 Capillary/arteriovenous malformation (2 genes) - UCL, Vascular malformations (germline) (38 genes) - UCL Capillary malformation-arteriovenous malformation, Vein of Galen aneurysmal malformation, Parkes Weber syndrome Centre de Génétique Médicale UCL
Arteriovenous malformation (gene panel) Arteriovenous malformation (7 genes), Vascular malformations (germline) (38 genes) - UCL Hereditary hemorrhagic telangiectasia, Heritable pulmonary arterial hypertension, Familial cerebral saccular aneurysm, Vein of Galen aneurysmal malformation, Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome, Capillary malformation-arteriovenous malformation, Parkes Weber syndrome, Microcephaly-capillary malformation syndrome Centre de Génétique Médicale UCL