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
Creatine deficiency by Guanidinoacetate methyltransferase deficiency (2 genes)	GAMT, GATM		Guanidinoacetate methyltransferase deficiency, L-Arginine:glycine amidinotransferase deficiency	Centre de Génétique Humaine - CHU Sart-Tilman
Beta-globin hemoglobinopathies, phenotype modifiers (hot spot mutations - rs7482144 (Xmn1) at promoter 158 bp 5′ upstream of HBG2 / 32C-T in the 5' UTR of the HBS1L)	BCL11A, HBG2, HBS1L	Beta-globin hemoglobinopathies, phenotype modifiers ( 3 genes) - ULB	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome, Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome, Hemoglobinopathy Toms River	Centre de Génétique Humaine - Erasme ULB
Temple syndrome / Kagami-Ogata Syndrome	DLK1, MEG3, RTL1		Temple syndrome due to maternal uniparental disomy of chromosome 14, Temple syndrome due to paternal 14q32.2 hypomethylation, Temple syndrome due to paternal 14q32.2 microdeletion, Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14, Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation, Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	Centre de Génétique Médicale UCL
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

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