Genetic tests

Full name Analytes Gene panels Disease Laboratory
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
Hypogonadotropic hypogonadism (33 genes) Hypogonadotropic hypogonadism (33 genes) - VUB Normosmic congenital hypogonadotropic hypogonadism Centrum Medische Genetica - UZ Brussel VUB
Kallmann syndrome / Hypogonadotropic Hypogonadism (FGFR1 gene) FGFR1 Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism Centre de Génétique Humaine - CHU Sart-Tilman
Nephrotic syndrome, Focal Segmental Glomerulosclerosis (FSGS) , Alport syndrome and podocytopathy (gene panel) Nephrotic syndrome, FSGS, Alport syndrome (76 genes) - IPG Alport syndrome, Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis, Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis, Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Deficiency of Vitamin K-Dependent Clotting Factors VKORC1, GGCX Hereditary combined deficiency of vitamin K-dependent clotting factors Centrum Medische Genetica - UZ Gent
Pseudoxanthoma Elasticum with clotting deficiency GGCX Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency, Hereditary combined deficiency of vitamin K-dependent clotting factors Centrum Medische Genetica - UZ Gent
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