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
Dentatorubral pallidoluysian atrophy (DRPLA) - CAG repeat expansion	ATN1		Dentatorubral pallidoluysian atrophy	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Dentatorubral pallidoluysian atrophy (DRPLA) - CAG repeat expansion	ATN1		Dentatorubral pallidoluysian atrophy	Centrum Medische Genetica - UZ Antwerpen
Dentatorubral pallidoluysian atrophy - ATN1 gene CAG repeat expansion	ATN1		Dentatorubral pallidoluysian atrophy	Centrum Medische Genetica - UZ Brussel VUB
Spinocerebellar ataxia (type 8, 17) + Dentatorubral pallidoluysian atrophy - repeat expansion	ATXN8, TBP, ATN1	Spinocerebellar ataxia (type 8, 17 + ATN1) (5 genes) - VUB	Spinocerebellar ataxia type 8, Spinocerebellar ataxia type 17, Dentatorubral pallidoluysian atrophy	Centrum Medische Genetica - UZ Brussel VUB
Candidiasis, familial 7 / Immunodeficiency 31A (AD) / Immunodefyciency 31B (AR)	STAT1		Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Susceptibility to viral and mycobacterial infections due to STAT1 deficiency, Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	Centrum Menselijke Erfelijkheid - KUL
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
Nephrotic syndrome, Focal Segmental Glomerulosclerosis (FSGS) , Alport syndrome and podocytopathy (gene panel)		Nephrotic syndrome, FSGS, Alport syndrome (76 genes) - IPG	Alport syndrome, Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis, Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis, Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)

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