Genetic tests

Full name Analytes Gene panels Disease Laboratory
Dihydropyrimidine dehydrogenase deficiency/5-fluorouracil toxicity - Pharmacogenetics (4 variants: DPYD*2A, DPYD*13, c.2846A>T, HapB3) DPYD 5-fluorouracil toxicity Centrum Medische Genetica - UZ Antwerpen
5-fluorouracil (5-FU) toxicity - DPYD sequencing (all exons) - Pharmacogenetics DPYD 5-fluorouracil toxicity Centre de Génétique Médicale UCL
Dihydropyrimidine dehydrogenase deficiency (5-fluorouracil (5-FU) toxicity) - Pharmacogenetics DPYD 5-fluorouracil toxicity, Dihydropyrimidine dehydrogenase deficiency Centre de Génétique Humaine - CHU Sart-Tilman
5-fluorouracil toxicity - DPYD genotyping (4 hot spot mutations - DPYD*2A, DPYD*13, D949V, HapB3) - Pharmacogenetics DPYD 5-fluorouracil toxicity Centre de Génétique Médicale UCL
Metabolic diseases with hepatic disorders (20 genes) ATP7B, CPT1A, CYP27A1, DGUOK, DHCR7, EHHADH, GBE1, GNAS, GUSB, LIPA, MPV17, NEU1, NPC1, NPC2, POLG, SI, SLC25A13, SMPD1, TALDO1, TRMU Metabolic diseases with hepatic disorders (20 genes) - UCL Wilson disease, CPT deficiency, hepatic, type IA, Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency, Smith-Lemli-Opitz syndrome, Primary Fanconi renotubular syndrome, Glycogen storage disease IV, McCune-Albright syndrome, Mucopolysaccharidosis type 7, Wolman disease, Cholesteryl ester storage disease, Sialidosis type 1, Juvenile sialidosis type 2, Congenital sialidosis type 2, Niemann-Pick disease type C, severe perinatal form, Niemann-Pick disease type C, late infantile neurologic onset, Niemann-Pick disease type C, severe early infantile neurologic onset, Niemann-Pick disease type C, adult neurologic onset, Niemann-Pick disease type C, juvenile neurologic onset, Chronic visceral acid sphingomyelinase deficiency, Infantile neurovisceral acid sphingomyelinase deficiency, Congenital sucrase-isomaltase deficiency with starch and lactose intolerance, Citrullinemia type II, Transaldolase deficiency, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Cerebrotendinous xanthomatosis Centre de Génétique Médicale UCL
Leiomyomatosis and renal cell cancer FH Hereditary leiomyomatosis and renal cell cancer Centre de Génétique Médicale UCL
Spinocerebellar ataxia (SCA) types 8, 10, 12, 17 - repeat expansion ATXN8, ATXN10, PPP2R2B, TBP Spinocerebellar ataxia (type 8, 10, 12, 17) (4 genes) - UZA Spinocerebellar ataxia type 8, Spinocerebellar ataxia type 10, Spinocerebellar ataxia type 12, Spinocerebellar ataxia type 17 Centrum Medische Genetica - UZ Antwerpen
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