Genetic tests

Full name Analytes Gene panels Disease Laboratory
Venous malformation (3 genes) TEK, GLMN Venous malformation (3 genes) - UCL, Vascular malformations (germline) (38 genes) - UCL Blue rubber bleb nevus, Mucocutaneous venous malformations, Glomuvenous malformation, Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, Juvenile polyposis of infancy, Proteus syndrome, Proteus-like syndrome, Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus 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
Leiomyomatosis and renal cell cancer FH Hereditary leiomyomatosis and renal cell cancer Centre de Génétique Médicale UCL
Craniosynostosis, Muenke syndrome (hot spot mutation - p.Pro250 in FGFR3 gene ) FGFR3 Muenke syndrome Centrum Medische Genetica - UZ Gent
Craniosynostosis, Muenke syndrome (hot spot mutation - p.Pro250Arg) FGFR3 Muenke syndrome Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Craniosynostosis, Muenke syndrome (hot spot mutation - p.Pro250Arg) FGFR3 Muenke syndrome Centrum Medische Genetica - UZ Antwerpen
Craniosynostosis / Muenke syndrome (hot spot mutation - p.Pro250Arg) FGFR3 Muenke syndrome Centre de Génétique Humaine - CHU Sart-Tilman
Alport autosomal recessive and X-linked and hematuria (3 genes) COL4A3, COL4A4, COL4A5 Alport (X-linked and recessive) (3 genes) - IPG Autosomal recessive Alport syndrome, X-linked Alport syndrome Centre de Génétique-Institut de Pathologie et de Génétique (IPG)