Genetic tests

Full name Analytes Gene panels Disease Laboratory
Friedreich ataxia - GAA repeat expansion FXN Friedreich ataxia Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Friedreich ataxia - GAA repeat expansion FXN Friedreich ataxia Centre de Génétique Humaine - CHU Sart-Tilman
Friedreich ataxia - GAA repeat expansion FXN Friedreich ataxia Centrum Menselijke Erfelijkheid - KUL
Congenital hemangioma (2 genes) GNAQ, GNA11 Familial multiple nevi flammei, Sturge-Weber syndrome, Uveal melanoma Centrum Menselijke Erfelijkheid - KUL
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
Beta-globin hemoglobinopathies, phenotype modifiers (hot spot mutations - rs7482144 (Xmn1) at promoter 158 bp 5′ upstream of HBG2 / 32C-T in the 5' UTR of the HBS1L) BCL11A, HBG2, HBS1L Beta-globin hemoglobinopathies, phenotype modifiers ( 3 genes) - ULB Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome, Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome, Hemoglobinopathy Toms River Centre de Génétique Humaine - Erasme ULB
Kabuki syndrome (gene panel) KMT2D, KDM6A, KMT2A, HNRNPK, RAP1A, RAP1B, PACS1 Kabuki (7 genes) - IPG Kabuki syndrome Centre de Génétique-Institut de Pathologie et de Génétique (IPG)