Genetic tests

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
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
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)
Obesity (gene panel) ADCY3, BDNF, LEP, LEPR, MC3R, MC4R, NR0B2, NTRK2, PCSK1, POMC, SIM1, UCP3 Obesitas (genepanel) - UZA Centrum Medische Genetica - UZ Antwerpen
Obesitas, early onset (gene panel) MC4R, MC3R, LEP, LEPR, PCSK1, POMC, SIM1, NTRK2 Obesitas, early onset (8 genes) - VUB Centrum Medische Genetica - UZ Brussel VUB
Obesitas, Monogenic early onset MC4R Obesity due to melanocortin 4 receptor deficiency Centre de Génétique Humaine - CHU Sart-Tilman
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