Genetic tests | Belgian Genetic Tests database

Full name	Analytes	Gene panels	Disease	Laboratory
Saethre-Chotzen syndrome	TWIST1		Saethre-Chotzen syndrome	Centrum Medische Genetica - UZ Gent
Fanconi anemia (FANCC) (hot spot mutation - c.456+4A>T)	FANCC		Fanconi anemia	Centrum Medische Genetica - UZ Antwerpen
Jewish mutation panel (Tay Sachs, Fanconi, Dysautonomia, Canavan) (4 genes; 7 hot spot mutations)	ASPA, ELP1, HEXA, FANCC	Hot spot mutation among Jewish (4 genes, 7 mutations) - UZA		Centrum Medische Genetica - UZ Antwerpen
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 (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
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

Did not find what you were looking for? Contact us through the support center.