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
Noonan syndrome (Screening PTPN11)	PTPN11		Noonan syndrome, Noonan syndrome with multiple lentigines	Centrum Menselijke Erfelijkheid - KUL
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
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
Hypercholesterolemia (9 genes)	LDLR, APOB, PCSK9, ABCG5, ABCG8, APOE, LDLRAP1, LIPA, STAP1	Hypercholesterolemia (9 genes) - UCL	Homozygous familial hypercholesterolemia	Centre de Génétique Médicale UCL
Hypercholesterolemia, Familial (Gene Panel)	LDLR, APOB, APOE, PCSK9, LDLRAP1	Familial Hypercholesterolemia (9 genes) - IPG	Homozygous familial hypercholesterolemia	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hypercholesterolemia, Familial (9 genes)	LDLR, APOB, APOE, PCSK9, ABCG5, ABCG8, LDLRAP1, LIPA, STAP1	Familial Hypercholesterolemia panel (9 genes) - ULG	Homozygous familial hypercholesterolemia, Heterozygous familial hypercholesterolemia (NON RARE IN EUROPE), Sitosterolemia, Cholesteryl ester storage disease	Centre de Génétique Humaine - CHU Sart-Tilman

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