Genetic tests

Full name Analytes Gene panels Disease Laboratory
Sex determining region Y SRY 45,X/46,XY mixed gonadal dysgenesis, 46,XX ovotesticular difference of sex development, 46,XX testicular difference of sex development, 46,XY complete gonadal dysgenesis, 46,XY partial gonadal dysgenesis Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Sex determining region Y SRY 45,X/46,XY mixed gonadal dysgenesis, 46,XY complete gonadal dysgenesis, 46,XX ovotesticular difference of sex development, 46,XY partial gonadal dysgenesis, 46,XX testicular difference of sex development Centre de Génétique Humaine - CHU Sart-Tilman
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
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