Genetic tests

Full name Analytes Gene panels Disease Laboratory
Chronic granulomatous disease, X-linked CYBB Chronic granulomatous disease, X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency Centrum Menselijke Erfelijkheid - KUL
Hemophilia A F8 Hemophilia A, Severe hemophilia A, Moderate hemophilia A, Mild hemophilia A, Bleeding disorder in hemophilia A carriers Centre de Génétique Médicale UCL
Hemophilia A (inversions) F8 Severe hemophilia A, Bleeding disorder in hemophilia A carriers Centre de Génétique Médicale UCL
Hemophilia A F8 Hemophilia A, Mild hemophilia A, Severe hemophilia A, Moderate hemophilia A, Bleeding disorder in hemophilia A carriers Centrum Menselijke Erfelijkheid - KUL
Factor V- cambridge, liverpool and hong kong variant (hot spot mutations - p.Arg334Thr, p.Arg306) F5 Congenital factor V deficiency Centre de Génétique Humaine - CHU Sart-Tilman
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 (Gene Panel) LDLR, APOB, APOE, PCSK9, LDLRAP1 Familial Hypercholesterolemia (9 genes) - IPG Homozygous familial hypercholesterolemia Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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
Hypercholesterolemia, Familial (4 genes) LDLR, APOB, APOE, PCSK9 Familial Hypercholesterolemia panel (4 genes) - KUL Homozygous familial hypercholesterolemia Centrum Menselijke Erfelijkheid - KUL
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