Genetic tests

Full name Analytes Gene panels Disease Laboratory
Central Precocious Puberty (5 genes) MKRN3, KISS1, KISS1R, PROKR2, DLK1 Central Precocious Puberty (5 genes) - ULG Idiopathic central precocious puberty Centre de Génétique Humaine - CHU Sart-Tilman
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
Dihydropyrimidine dehydrogenase deficiency (5-fluorouracil (5-FU) toxicity) - Pharmacogenetics DPYD 5-fluorouracil toxicity, Dihydropyrimidine dehydrogenase deficiency Centre de Génétique Humaine - CHU Sart-Tilman
Dihydropyrimidine dehydrogenase deficiency; 5-fluorouracil toxicity - pharmacogenetics (4 variants: DPYD*2A, DPYD*13, c.2846A>T, HapB3) - Pharmacogenetics DPYD Dihydropyrimidine dehydrogenase deficiency Centrum Medische Genetica - UZ Gent
Dihydropyrimidine dehydrogenase deficiency/5-fluorouracil toxicity - Pharmacogenetics (4 variants: DPYD*2A, DPYD*13, c.2846A>T, HapB3) DPYD Dihydropyrimidine dehydrogenase deficiency Centrum Menselijke Erfelijkheid - KUL
Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome TYMP, POLG, POLG2, RRM2B MNGIE syndrome (4 genes) - VUB Mitochondrial neurogastrointestinal encephalomyopathy Centrum Medische Genetica - UZ Brussel VUB
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