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
Hypogonadism. Male Infertility (LHB gene)	LHB		Leydig cell hypoplasia due to LHB deficiency	Centre de Génétique Humaine - CHU Sart-Tilman
Tay Sachs disease (hot spot mutations - c.1274_1277dupTATC, c.1421+1G>C and c.805G>A (p.Gly269Ser))	HEXA		Tay-Sachs disease, B variant, adult form, Tay-Sachs disease, B variant, juvenile form, Tay-Sachs disease, B variant, infantile form	Centrum Medische Genetica - UZ Antwerpen
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
Amyotrophic Lateral Sclerosis (ALS) (gene panel)		Amyotrophic Lateral Sclerosis (ALS) - UGent	Amyotrophic lateral sclerosis, Juvenile amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis type 4	Centrum Medische Genetica - UZ Gent
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 (gene panel)		Familial Hypercholesterolemia panel (8 genes) - UZA	Homozygous familial hypercholesterolemia	Centrum Medische Genetica - UZ Antwerpen
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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