Genetic tests

Full name Analytes Gene panels Disease Laboratory
Congenital generalized lipodystrophy type 2 / Spastic paraplegia-17 / Hereditary motor neuronopathy type VA / Silver spastic paraplegia syndrome (hot spot mutation - p.Asn88Ser; p.Ser90; p.Arg96His) BSCL2 Autosomal dominant spastic paraplegia type 17, Severe neurodegenerative syndrome with lipodystrophy, Distal hereditary motor neuropathy type 5, Congenital generalized lipodystrophy Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
GM2-gangliosidosis / Tay-Sachs syndrome diagnostic (HEXA gene hot spot mutations - c.1274_1277dupTATC, c.1421+1G>C and c.805G>A (p.Gly269Ser)) HEXA Tay-Sachs disease, B variant, juvenile form, Tay-Sachs disease, B variant, infantile form, Tay-Sachs disease, B1 variant, Tay-Sachs disease, B variant, adult form Centrum Medische Genetica - UZ Brussel VUB
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 (gene panel) Familial Hypercholesterolemia panel (8 genes) - UZA Homozygous familial hypercholesterolemia Centrum Medische Genetica - UZ Antwerpen
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
Gilbert syndrome (homozygous A(TA)7TAA allele) UGT1A1 Gilbert syndrome (NON RARE IN EUROPE) Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Gilbert syndrome / Irinotecan sensitivity (homozygous A(TA)7TAA allele) - Pharmacogenetics UGT1A1 Gilbert syndrome (NON RARE IN EUROPE), Irinotecan toxicity Centre de Génétique Humaine - Erasme ULB
Gilbert disease / Irinotecan sensitivity / Raltegravir toxicity - Pharmacogenetics UGT1A1 Gilbert syndrome (NON RARE IN EUROPE), Irinotecan toxicity Centre de Génétique Humaine - CHU Sart-Tilman
Gilbert syndrome / Irinotecan sensitivity (homozygous A(TA)7TAA allele) UGT1A1 Gilbert syndrome (NON RARE IN EUROPE), Irinotecan toxicity, Transient familial neonatal hyperbilirubinemia Centrum Menselijke Erfelijkheid - KUL
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