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
Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp)	HFE		Symptomatic form of hemochromatosis type 1, Hemochromatosis type 1 (NON RARE IN EUROPE)	Centre de Génétique Médicale UCL
Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp in HFE gene)	HFE		Symptomatic form of hemochromatosis type 1, Hemochromatosis type 1 (NON RARE IN EUROPE)	Centrum Medische Genetica - UZ Gent
Hemochromatosis hereditary type 1 (hot spot mutations p.Cys282Tyr; p.His63Asp)	HFE		Symptomatic form of hemochromatosis type 1, Hemochromatosis type 1 (NON RARE IN EUROPE)	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp)	HFE		Symptomatic form of hemochromatosis type 1, Hemochromatosis type 1 (NON RARE IN EUROPE)	Centrum Medische Genetica - UZ Antwerpen
Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp)	HFE		Symptomatic form of hemochromatosis type 1, Hemochromatosis type 1 (NON RARE IN EUROPE)	Centre de Génétique Humaine - Erasme ULB
Hemochromatosis hereditary type 1 (HFE gene hot spot mutations - p.Cys282Tyr; p.His63Asp)	HFE		Symptomatic form of hemochromatosis type 1, Hemochromatosis type 1 (NON RARE IN EUROPE)	Centrum Medische Genetica - UZ Brussel VUB
Hemochromatosis hereditary type 1 (HFE gene - hot spot mutations - p.Cys282Tyr; p.His63Asp)	HFE		Symptomatic form of hemochromatosis type 1, Hemochromatosis type 1 (NON RARE IN EUROPE)	Centre de Génétique Humaine - CHU Sart-Tilman
Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp)	HFE		Symptomatic form of hemochromatosis type 1, Hemochromatosis type 1 (NON RARE IN EUROPE)	Centrum Menselijke Erfelijkheid - KUL
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
Carnitine Palmitoyltransferase type II	CPT2		Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, neonatal form	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Carnitine Palmitoyl transferase type II	CPT2		Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, myopathic form	Centrum Medische Genetica - UZ Antwerpen
Uniparental Disomy (UDP7; UDP11; UDP14; UDP15; UDP16)			Paternal uniparental disomy of chromosome 7, Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7, Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11, Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11, Temple syndrome due to maternal uniparental disomy of chromosome 14, Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14, Angelman syndrome due to paternal uniparental disomy of chromosome 15, Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15, Maternal uniparental disomy of chromosome 16	Centrum Medische Genetica - UZ Gent
Uniparental Disomy (UDP7; UDP11; UDP14; UDP20)			Paternal uniparental disomy of chromosome 7, Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7, Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11, Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11, Temple syndrome due to maternal uniparental disomy of chromosome 14, Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	Centrum Menselijke Erfelijkheid - KUL

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