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
Venous malformation (3 genes)	TEK, GLMN	Venous malformation (3 genes) - UCL, Vascular malformations (germline) (38 genes) - UCL	Blue rubber bleb nevus, Mucocutaneous venous malformations, Glomuvenous malformation, Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, Juvenile polyposis of infancy, Proteus syndrome, Proteus-like syndrome, Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	Centre de Génétique Médicale UCL
Leber Congenital Amaurosis - Retinal dystrophy, early onset (gene panel)		Leber Congenital Amaurosis - UGent	Leber congenital amaurosis, Cone rod dystrophy, Retinitis pigmentosa, Senior-Loken syndrome, Severe early-childhood-onset retinal dystrophy	Centrum Medische Genetica - UZ Gent
Dihydropyrimidine dehydrogenase deficiency/5-fluorouracil toxicity - Pharmacogenetics (4 variants: DPYD2A, DPYD13, c.2846A>T, HapB3)	DPYD		5-fluorouracil toxicity	Centrum Medische Genetica - UZ Antwerpen
5-fluorouracil (5-FU) toxicity - DPYD sequencing (all exons) - Pharmacogenetics	DPYD		5-fluorouracil toxicity	Centre de Génétique Médicale UCL
Dihydropyrimidine dehydrogenase deficiency (5-fluorouracil (5-FU) toxicity) - Pharmacogenetics	DPYD		5-fluorouracil toxicity, Dihydropyrimidine dehydrogenase deficiency	Centre de Génétique Humaine - CHU Sart-Tilman
5-fluorouracil toxicity - DPYD genotyping (4 hot spot mutations - DPYD2A, DPYD13, D949V, HapB3) - Pharmacogenetics	DPYD		5-fluorouracil toxicity	Centre de Génétique Médicale UCL
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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