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
Usher syndrome, type IIA USH2A Usher syndrome type 2 Centrum Medische Genetica - UZ Gent
Usher syndrome (gene panel) CDH23, CLRN1, WHRN, ADGRV1, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A Usher syndrome (10 genes) - UZA Centrum Medische Genetica - UZ Antwerpen
Bronchiectasis (4 genes) CFTR, SCNN1A, SCNN1B, SCNN1G Bronchiectasis (4 genes) - UCL Idiopathic bronchiectasis Centre de Génétique Médicale UCL
Bronchiectasies with or without elevated sweat chloride panel (5 genes) CFTR, SCNN1A, SCNN1B, SCNN1G Pulmonary/Bronchiectasies (5 genes) - IPG Idiopathic bronchiectasis, Cystic fibrosis Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Leydig cell hypoplasia or Precocious puberty, male-limited LHCGR Familial peripheral male-limited precocious puberty, Leydig cell hypoplasia due to partial LH resistance, Leydig cell hypoplasia due to complete LH resistance Centre de Génétique Humaine - Erasme ULB
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