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
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) (hot spot mutation - m.3243A>G)	MT-TL1		MELAS	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Diabetes, mitochondrial (hot spot mutation - m.3243A>G, MTTL1 (tRNA-Leu) )	MT-TL1		MELAS	Centrum Medische Genetica - UZ Antwerpen
Maternally inherited deafness	MT-TS1		Rare mitochondrial non-syndromic sensorineural deafness, MELAS	Centrum Medische Genetica - UZ Brussel VUB
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) (full sequencing)	MT-TL1		MELAS	Centrum Medische Genetica - UZ Brussel VUB
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) (hot spot mutation - m.3243A>G)	MT-TL1		MELAS	Centrum Medische Genetica - UZ Brussel VUB
Maternally-inherited diabetes and deafness / Mitochondrial myopathy with reversible cytochrome C oxidase deficiency / mitochondrial tRNA glutamic acid	MT-TE		Maternally-inherited diabetes and deafness, MELAS	Centrum Medische Genetica - UZ Brussel VUB
Alagille syndrome (2 genes)	JAG1, NOTCH2	Alagille syndrome (2 genes) - UCL	Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a NOTCH2 point mutation, Alagille syndrome due to 20p12 microdeletion	Centre de Génétique Médicale UCL
Lipodystrophy (2 genes)	AGPAT2, BSCL2	Lipodystrophy (2 genes) - IPG	Congenital generalized lipodystrophy, Severe neurodegenerative syndrome with lipodystrophy	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Congenital generalized lipodystrophy type 2 / Spastic paraplegia-17 / Hereditary motor neuronopathy type VA / Silver spastic paraplegia syndrome (hot spot mutation - p.Asn88Ser; p.Ser90; p.Arg96His)	BSCL2		Autosomal dominant spastic paraplegia type 17, Severe neurodegenerative syndrome with lipodystrophy, Distal hereditary motor neuropathy type 5, Congenital generalized lipodystrophy	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hereditary angioneurotic edema (2 genes)	F12, SERPING1		C1 inhibitor deficiency, Hereditary angioedema type 1, Hereditary angioedema type 2	Centre de Génétique Médicale UCL

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