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
Cardiofaciocutaneous syndrome (5 genes)	HRAS, KRAS, BRAF, MAP2K2, MAP2K1		Cardiofaciocutaneous syndrome	Centre de Génétique Humaine - CHU Sart-Tilman
Costello Syndrome- Schimmelpenning syndrome	HRAS		Costello syndrome	Centre de Génétique Humaine - CHU Sart-Tilman
Vascular malformations (somatic)	AKT1, AKT2, AKT3, ALK, BRAF, GNA11, GNA14, GNAQ, HRAS, IDH1, IDH2, KRAS, NRAS, PIK3CA, PIK3R1, PIK3R2, PTEN, TEK, MAP3K3, MAP2K1	Vascular malformations (somatic) (19 genes) - UCL	Capillary malformation-arteriovenous malformation, CLOVES syndrome, Maffucci syndrome, Proteus syndrome	Centre de Génétique Médicale UCL
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
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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