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
Vascular malformations (somatic) AKT1, AKT2, AKT3, ALK, BRAF, GNA11, GNA14, GNAQ, HRAS, IDH1, IDH2, KRAS, NRAS, PIK3CA, PIK3R1, PIK3R2, PTEN, TEK, MAP3K3, MAP2K1 Vascular malformations (somatic) (19 genes) - UCL Capillary malformation-arteriovenous malformation, CLOVES syndrome, Maffucci syndrome, Proteus syndrome Centre de Génétique Médicale UCL
Hereditary angioneurotic edema (2 genes) F12, SERPING1 C1 inhibitor deficiency, Hereditary angioedema type 1, Hereditary angioedema type 2 Centre de Génétique Médicale UCL
Hereditary angioedema type III (F12 gene - hot spot mutations - p.Thr328Lys; p. Thr328Arg) F12 F12-related hereditary angioedema with normal C1Inh Centre de Génétique Humaine - CHU Sart-Tilman
Hereditary Angioedema (7 genes) PLG, F12, SERPING1, ANGPT1, KNG1 Angioedema (7 genes) - IPG F12-related hereditary angioedema with normal C1Inh, Hereditary angioedema type 1, Hereditary angioedema type 2, PLG-related hereditary angioedema with normal C1Inh Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Floating Harbor SRCAP Floating-Harbor syndrome Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hallervorden-Spatz disease (Neurodegeneration with brain iron accumulation type 1) / HARP syndrome (Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis pigmentosa, and Pallidal degeneration) PANK2 Classic pantothenate kinase-associated neurodegeneration, Atypical pantothenate kinase-associated neurodegeneration Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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