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
Kabuki syndrome (gene panel)	KMT2D, KDM6A, KMT2A, HNRNPK, RAP1A, RAP1B, PACS1	Kabuki (7 genes) - IPG	Kabuki 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
GM2-gangliosidosis / Tay-Sachs syndrome diagnostic (HEXA gene hot spot mutations - c.1274_1277dupTATC, c.1421+1G>C and c.805G>A (p.Gly269Ser))	HEXA		Tay-Sachs disease, B variant, juvenile form, Tay-Sachs disease, B variant, infantile form, Tay-Sachs disease, B1 variant, Tay-Sachs disease, B variant, adult form	Centrum Medische Genetica - UZ Brussel VUB
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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