Genetic tests | Belgian Genetic Tests database

Full name	Analytes	Gene panels	Disease	Laboratory
Craniosynostosis syndrome (hot spot mutation - p.Pro252Arg)	FGFR1		Pfeiffer syndrome type 1	Centrum Medische Genetica - UZ Antwerpen
Kallmann syndrome / Hypogonadotropic Hypogonadism (FGFR1 gene)	FGFR1		Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism	Centre de Génétique Humaine - CHU Sart-Tilman
Usher syndrome (gene panel)	CDH23, CLRN1, WHRN, ADGRV1, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A	Usher syndrome (10 genes) - 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 (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
Hypercholesterolemia, Familial (4 genes)	LDLR, APOB, APOE, PCSK9	Familial Hypercholesterolemia panel (4 genes) - KUL	Homozygous familial hypercholesterolemia	Centrum Menselijke Erfelijkheid - KUL

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