Genetic tests | Belgian Genetic Tests database

Statistics

Type	Total	Last update
Genetic tests	859	2024-02-16
Diseases	4232	2023-06-22
Analytes	6169	2023-12-20
Gene panels	380	2024-03-20

Full name	Analytes	Gene panels	Disease	Laboratory
Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp)	HFE		Symptomatic form of hemochromatosis type 1, Hemochromatosis type 1 (NON RARE IN EUROPE)	Centre de Génétique Médicale UCL
Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp in HFE gene)	HFE		Symptomatic form of hemochromatosis type 1, Hemochromatosis type 1 (NON RARE IN EUROPE)	Centrum Medische Genetica - UZ Gent
Hemochromatosis hereditary type 1 (hot spot mutations p.Cys282Tyr; p.His63Asp)	HFE		Symptomatic form of hemochromatosis type 1, Hemochromatosis type 1 (NON RARE IN EUROPE)	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp)	HFE		Symptomatic form of hemochromatosis type 1, Hemochromatosis type 1 (NON RARE IN EUROPE)	Centrum Medische Genetica - UZ Antwerpen
Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp)	HFE		Symptomatic form of hemochromatosis type 1, Hemochromatosis type 1 (NON RARE IN EUROPE)	Centre de Génétique Humaine - Erasme ULB
Hemochromatosis hereditary type 1 (HFE gene hot spot mutations - p.Cys282Tyr; p.His63Asp)	HFE		Symptomatic form of hemochromatosis type 1, Hemochromatosis type 1 (NON RARE IN EUROPE)	Centrum Medische Genetica - UZ Brussel VUB
Hemochromatosis hereditary type 1 (HFE gene - hot spot mutations - p.Cys282Tyr; p.His63Asp)	HFE		Symptomatic form of hemochromatosis type 1, Hemochromatosis type 1 (NON RARE IN EUROPE)	Centre de Génétique Humaine - CHU Sart-Tilman
Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp)	HFE		Symptomatic form of hemochromatosis type 1, Hemochromatosis type 1 (NON RARE IN EUROPE)	Centrum Menselijke Erfelijkheid - KUL
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
Thanatophoric dysplasia (hot spot mutations - p.Arg248 / p.Gly370 / p.Ser371 / p.Tyr373 / p.Lys650 / p.X806 in FGFR3 gene)	FGFR3		Thanatophoric dysplasia type 2, Thanatophoric dysplasia type 1	Centrum Medische Genetica - UZ Gent
Thanatophoric dysplasia types 1 and 2 (hot spot mutation - p.Lys650Glu)	FGFR3		Thanatophoric dysplasia type 1, Thanatophoric dysplasia type 2	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Thanatophoric dysplasia (hot spot mutations - p.Tyr373Cys, p.Arg248Cys, p.Ser249Cys)	FGFR3		Thanatophoric dysplasia type 1, Thanatophoric dysplasia type 2	Centrum Medische Genetica - UZ Antwerpen
Hemophilia A	F8		Hemophilia A, Severe hemophilia A, Moderate hemophilia A, Mild hemophilia A, Bleeding disorder in hemophilia A carriers	Centre de Génétique Médicale UCL
Hemophilia A	F8		Hemophilia A, Mild hemophilia A, Severe hemophilia A, Moderate hemophilia A, Bleeding disorder in hemophilia A carriers	Centrum Menselijke Erfelijkheid - KUL

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