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
Hereditary cancer (Breast, ovary, colon) (26 genes)	BRCA1, BRCA2, BARD1, BRIP1, CDH1, MLH1, MSH2, MSH6, MEN1, PTEN, RAD50, RAD51D, STK11, TP53, CHEK2, MUTYH, PALB2, RAD51C, ATM, EPCAM, BLM, NBN, PMS2, XRCC2, ABRAXAS1, MRE11	Cancer (Breast, ovary, colon,…) (26 genes) - ULG		Centre de Génétique Humaine - CHU Sart-Tilman
Medium chain acyl-CoA dehydrogenase deficiency (MCAD hot spot mutation - p.Lys329Glu)	ACADM		Medium chain acyl-CoA dehydrogenase deficiency	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Medium chain acyl-CoA dehydrogenase deficiency (MCAD-ACADM)	ACADM		Medium chain acyl-CoA dehydrogenase deficiency	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Medium chain acyl-CoA dehydrogenase deficiency (MCAD-ACADM gene)	ACADM		Medium chain acyl-CoA dehydrogenase deficiency	Centrum Medische Genetica - UZ Brussel VUB
Medium chain acyl-CoA dehydrogenase deficiency (MCAD hot spot mutation - p.Lys329Glu)	ACADM		Medium chain acyl-CoA dehydrogenase deficiency	Centre de Génétique Humaine - CHU Sart-Tilman
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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