Genetic tests

Full name Analytes Gene panels Disease Laboratory
Waardenburg syndrome (gene panel) EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10 Waardenburg syndrome (6 genes) - UZA Waardenburg syndrome type 1, Waardenburg syndrome type 2, Waardenburg syndrome type 3, Waardenburg-Shah syndrome Centrum Medische Genetica - UZ Antwerpen
FSHR - Ovarian Hyperstimulation Syndrome FSHR Ovarian hyperstimulation syndrome, Primary ovarian failure (NON RARE IN EUROPE) Centre de Génétique Humaine - Erasme ULB
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 (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)
Hypercholesterolemia (9 genes) LDLR, APOB, PCSK9, ABCG5, ABCG8, APOE, LDLRAP1, LIPA, STAP1 Hypercholesterolemia (9 genes) - UCL Homozygous familial hypercholesterolemia Centre de Génétique Médicale UCL
Hypercholesterolemia, Familial (9 genes) LDLR, APOB, APOE, PCSK9, ABCG5, ABCG8, LDLRAP1, LIPA, STAP1 Familial Hypercholesterolemia panel (9 genes) - ULG Homozygous familial hypercholesterolemia, Heterozygous familial hypercholesterolemia (NON RARE IN EUROPE), Sitosterolemia, Cholesteryl ester storage disease Centre de Génétique Humaine - CHU Sart-Tilman
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