Genetic tests

Full name Analytes Gene panels Disease Laboratory
Fructosemia (ALDOB gene) ALDOB Hereditary fructose intolerance Centrum Medische Genetica - UZ Brussel VUB
Gilbert disease - UGT1A1*28,*36,*37 {A(TA)nTAA} + *6 genotyping - Pharmacogenetics UGT1A1 Transient familial neonatal hyperbilirubinemia, Irinotecan toxicity, Raltegravir toxicity Centre de Génétique Médicale UCL
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
Leydig cell hypoplasia or Precocious puberty, male-limited LHCGR Familial peripheral male-limited precocious puberty, Leydig cell hypoplasia due to partial LH resistance, Leydig cell hypoplasia due to complete LH resistance Centre de Génétique Humaine - Erasme ULB
Enzymatic dosage Pompe disease Glycogen storage disease due to acid maltase deficiency, Glycogen storage disease due to acid maltase deficiency, infantile onset, Glycogen storage disease due to acid maltase deficiency, late-onset Centrum Medische Genetica - UZ Brussel VUB
Pompe disease, Glycogen storage disease II (GAA gene) GAA Glycogen storage disease due to acid maltase deficiency, infantile onset, Glycogen storage disease due to acid maltase deficiency, late-onset Centrum Medische Genetica - UZ Brussel VUB
Enzymatic dosage MPS1/Hurler syndrome Hurler-Scheie syndrome, Hurler syndrome Centrum Medische Genetica - UZ Brussel VUB
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