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
Periodic paralysis (myotonia) / Paramyotonia congenita (SCN4A gene)	SCN4A		Hyperkalemic periodic paralysis, Hypokalemic periodic paralysis	Centrum Medische Genetica - UZ Brussel VUB
Lipodystrophy (2 genes)	AGPAT2, BSCL2	Lipodystrophy (2 genes) - IPG	Congenital generalized lipodystrophy, Severe neurodegenerative syndrome with lipodystrophy	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Congenital generalized lipodystrophy type 1	AGPAT2		Congenital generalized lipodystrophy	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Congenital generalized lipodystrophy type 2 / Spastic paraplegia-17 / Hereditary motor neuronopathy type VA / Silver spastic paraplegia syndrome (hot spot mutation - p.Asn88Ser; p.Ser90; p.Arg96His)	BSCL2		Autosomal dominant spastic paraplegia type 17, Severe neurodegenerative syndrome with lipodystrophy, Distal hereditary motor neuropathy type 5, Congenital generalized lipodystrophy	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Torsion dystonia 1 (DYT1) (hotspot mutation - c.907_909 delGAG)	TOR1A		Early-onset generalized limb-onset dystonia	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Torsion dystonia 1 (DYT1) (hot spot mutation - c.907_909delGAG)	TOR1A		Early-onset generalized limb-onset dystonia	Centrum Menselijke Erfelijkheid - KUL
Torsion dystonia 1 (hot spot mutation - c.907_909delGAG)	TOR1A		Early-onset generalized limb-onset dystonia	Centre de Génétique Humaine - Erasme ULB

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