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
Lipodystrophy (2 genes)	AGPAT2, BSCL2	Lipodystrophy (2 genes) - IPG	Congenital generalized lipodystrophy, Severe neurodegenerative syndrome with lipodystrophy	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Congenital generalized lipodystrophy type 2 / Spastic paraplegia-17 / Hereditary motor neuronopathy type VA / Silver spastic paraplegia syndrome (hot spot mutation - p.Asn88Ser; p.Ser90; p.Arg96His)	BSCL2		Autosomal dominant spastic paraplegia type 17, Severe neurodegenerative syndrome with lipodystrophy, Distal hereditary motor neuropathy type 5, Congenital generalized lipodystrophy	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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
Hereditary Polyposis Panel (11 genes) - ULG	APC, MUTYH, BMPR1A, NTHL1, SMAD4, MSH3, POLE, POLD1, PTEN, STK11, GREM1	Hereditary Polyposis Panel (11 genes) - ULG	Familial adenomatous polyposis, MUTYH-related attenuated familial adenomatous polyposis, Turcot syndrome with polyposis, Hereditary mixed polyposis syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Centre de Génétique Humaine - CHU Sart-Tilman
Adenomatous polyposis, familial (gene panel)	APC, MUTYH, BMPR1A, EPCAM, GREM1, MLH1, MSH2, MSH3, MSH6, NTHL1, PMS2, POLD1, POLE, PTEN, STK11, CDH1, SMAD4, TP53		Familial adenomatous polyposis, MUTYH-related attenuated familial adenomatous polyposis, Hereditary nonpolyposis colorectal cancer, Lynch syndrome	Centre de Génétique Médicale UCL
Hereditary nonpolyposis colorectal cancer (gene panel)	MLH1, MSH2, MSH6, PMS2, EPCAM, APC, BMPR1A, CDH1, GREM1, MSH3, MUTYH, NTHL1, POLD1, POLE, PTEN, STK11, SMAD4, TP53		Hereditary nonpolyposis colorectal cancer, Lynch syndrome, Constitutional mismatch repair deficiency syndrome	Centre de Génétique Médicale UCL

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