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
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
Achondrogenesis / Kniest dysplasia / Hypochondrogenesis	COL2A1		Achondrogenesis type 2, Hypochondrogenesis, Kniest dysplasia, Multiple epiphyseal dysplasia, Beighton type, Spondyloepiphyseal dysplasia congenita, Stickler syndrome type 1	Centrum Medische Genetica - UZ Gent
Multiple epiphyseal dysplasia	COL2A1, SLC26A2		Multiple epiphyseal dysplasia type 4	Centrum Medische Genetica - UZ Gent
Neurofibromatosis type 1 / Legius syndrome	NF1, SPRED1		Neurofibromatosis type 1, Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion, 17q11 microdeletion syndrome, Legius syndrome	Centrum Medische Genetica - UZ Gent
Lissencephaly / subcortical band heterotopia	PAFAH1B1		Lissencephaly due to LIS1 mutation, Subcortical band heterotopia	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Lissencephaly, X-linked / subcortical band heterotopia	DCX		Lissencephaly type 1 due to doublecortin gene mutation, Subcortical band heterotopia	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Malformations of cortical development (235 genes)		Malformations of cortical development (235 genes) - VUB	Bilateral perisylvian polymicrogyria, Cobblestone lissencephaly without muscular or ocular involvement, Lissencephaly due to LIS1 mutation, Lissencephaly due to TUBA1A mutation, Lissencephaly syndrome, Norman-Roberts type, Lissencephaly type 1 due to doublecortin gene mutation, Microlissencephaly, Polymicrogyria due to TUBB2B mutation, Subcortical band heterotopia, X-linked lissencephaly with abnormal genitalia	Centrum Medische Genetica - UZ Brussel VUB

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