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
Leber hereditary optic neuropathy (LHON) (hot spot mutations - p.Ala53Thr in MT-ND1; p.Arg340His in MT-ND4; p.Met64Val in MT-ND6)	MT-ND1, MT-ND4, MT-ND6		Leber hereditary optic neuropathy	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Leber hereditary optic neuropathy (LHON) (hot spot mutations - p.Ala53Thr in MT-ND1; p.Arg340His in MT-ND4; p.Met64Val in MT-ND6)	MT-ND1, MT-ND4, MT-ND6	LHON (3 genes) - VUB	Leber hereditary optic neuropathy	Centrum Medische Genetica - UZ Brussel VUB
Craniosynostosis syndromes (Apert, Crouzon)	FGFR2		Crouzon syndrome, Apert syndrome	Centrum Medische Genetica - UZ Antwerpen
Craniosynostosis / Apert syndrome (hot spot mutations - exon 7)	FGFR2		Apert syndrome	Centre de Génétique Humaine - CHU Sart-Tilman
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
Dihydropyrimidine dehydrogenase deficiency; 5-fluorouracil toxicity - pharmacogenetics (4 variants: DPYD2A, DPYD13, c.2846A>T, HapB3) - Pharmacogenetics	DPYD		Dihydropyrimidine dehydrogenase deficiency	Centrum Medische Genetica - UZ Gent
Dihydropyrimidine dehydrogenase deficiency/5-fluorouracil toxicity - Pharmacogenetics (4 variants: DPYD2A, DPYD13, c.2846A>T, HapB3)	DPYD		Dihydropyrimidine dehydrogenase deficiency	Centrum Menselijke Erfelijkheid - KUL
Temple syndrome / Kagami-Ogata Syndrome	DLK1, MEG3, RTL1		Temple syndrome due to maternal uniparental disomy of chromosome 14, Temple syndrome due to paternal 14q32.2 hypomethylation, Temple syndrome due to paternal 14q32.2 microdeletion, Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14, Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation, Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	Centre de Génétique Médicale UCL

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