Genetic tests

Full name Analytes Gene panels Disease Laboratory
alpha-globin hemoglobinopathies HBA1 Alpha-thalassemia Centre de Génétique Médicale UCL
Thalassemia Alpha (2 genes) HBA1, HBA2 Thalassemia Alpha (2 genes) - ULB Centre de Génétique Humaine - Erasme ULB
Sex determining region Y SRY 45,X/46,XY mixed gonadal dysgenesis, 46,XX ovotesticular difference of sex development, 46,XX testicular difference of sex development, 46,XY complete gonadal dysgenesis, 46,XY partial gonadal dysgenesis Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Sex determining region Y SRY 45,X/46,XY mixed gonadal dysgenesis, 46,XY complete gonadal dysgenesis, 46,XX ovotesticular difference of sex development, 46,XY partial gonadal dysgenesis, 46,XX testicular difference of sex development Centre de Génétique Humaine - CHU Sart-Tilman
Sex determining region (absence/presence) SRY Centre de Génétique Humaine - CHU Sart-Tilman
Protein S deficiency PROS1 Severe hereditary thrombophilia due to congenital protein S deficiency Centrum Medische Genetica - UZ Gent
Congenital hemangioma (2 genes) GNAQ, GNA11 Familial multiple nevi flammei, Sturge-Weber syndrome, Uveal melanoma Centrum Menselijke Erfelijkheid - KUL
Hypocalciuric hypercalcemia, familial type II GNA11 Familial hypocalciuric hypercalcemia type 2 Centre de Génétique Humaine - CHU Sart-Tilman
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
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