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
SLCO1B1*1b,*5,*15 genotyping (transport protein) - Pharmacogenetics SLCO1B1 Statin toxicity Centre de Génétique Médicale UCL
Non-cholestatic jaundice with direct bilirubin (3 genes) ABCC2, SLCO1B1, SLCO1B3 Non-cholestatic jaundice with direct bilirubin (3 genes) - UCL Rotor syndrome, Dubin-Johnson syndrome Centre de Génétique Médicale UCL
Medium chain acyl-CoA dehydrogenase deficiency (MCAD hot spot mutation - p.Lys329Glu) ACADM Medium chain acyl-CoA dehydrogenase deficiency Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Medium chain acyl-CoA dehydrogenase deficiency (MCAD-ACADM) ACADM Medium chain acyl-CoA dehydrogenase deficiency Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Medium chain acyl-CoA dehydrogenase deficiency (MCAD-ACADM gene) ACADM Medium chain acyl-CoA dehydrogenase deficiency Centrum Medische Genetica - UZ Brussel VUB
Medium chain acyl-CoA dehydrogenase deficiency (MCAD hot spot mutation - p.Lys329Glu) ACADM Medium chain acyl-CoA dehydrogenase 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
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