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
Pendred syndrome	SLC26A4		Pendred syndrome	Centrum Medische Genetica - UZ Antwerpen
Schinzel-Giedion midface retraction syndrome	SETBP1		Intellectual disability-expressive aphasia-facial dysmorphism syndrome, Schinzel-Giedion syndrome	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Coagulopathies (2 genes)	ITGA2B, ITGB3		Autosomal dominant macrothrombocytopenia, Glanzmann thrombasthenia, Fetal and neonatal alloimmune thrombocytopenia	Centre de Génétique Médicale UCL
Canavan disease (hot spot mutation - p.Glu285Ala, p.Tyr231*)	ASPA		Mild Canavan disease, Severe Canavan disease	Centrum Medische Genetica - UZ Antwerpen
Spinocerebellar ataxia (types 1, 2, 3, 6, 7) - CAG repeat expansion	ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7	Spinocerebellar ataxia (types 1, 2, 3, 6, 7) (5 genes) - KUL	Spinocerebellar ataxia type 1, Spinocerebellar ataxia type 2, Machado-Joseph disease type 3, Spinocerebellar ataxia type 6, Spinocerebellar ataxia type 7	Centrum Menselijke Erfelijkheid - KUL
Spinocerebellar ataxia (types 1, 2, 3, 6, 7, 17) - CAG repeat expansion	ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP	Spinocerebellar ataxia (types 1, 2, 3, 6, 7, 17) (6 genes) - IPG	Spinocerebellar ataxia type 1, Spinocerebellar ataxia type 2, Machado-Joseph disease type 3, Spinocerebellar ataxia type 6, Spinocerebellar ataxia type 7, Spinocerebellar ataxia type 17	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Spinocerebellar ataxia (SCA) types 1, 2, 3, 6, 7 - CAG repeat expansion	ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7	Spinocerebellar ataxia (types 1, 2, 3, 6, 7) (5 genes) - UZA	Spinocerebellar ataxia type 1, Spinocerebellar ataxia type 2, Machado-Joseph disease type 3, Spinocerebellar ataxia type 6, Spinocerebellar ataxia type 7	Centrum Medische Genetica - UZ Antwerpen
Spinocerebellar ataxia (types 1, 2, 3, 6, 7) - CAG repeat expansion	ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7	Spinocerebellar ataxia (types 1, 2, 3, 6, 7) (5 genes) - VUB	Spinocerebellar ataxia type 1, Spinocerebellar ataxia type 2, Machado-Joseph disease type 3, Spinocerebellar ataxia type 6, Spinocerebellar ataxia type 7	Centrum Medische Genetica - UZ Brussel VUB

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