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
Myhre syndrome (hot spot mutation - p.I500)	SMAD4		Myhre syndrome	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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
Melanoma (6 genes)	BAP1, CDK4, CDKN2A, MC1R, MITF, POT1	Melanoma (6 genes) - UCL	Familial melanoma, MITF-related melanoma and renal cell carcinoma predisposition syndrome, Uveal melanoma, Melanoma of soft tissue	Centre de Génétique Médicale UCL
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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