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
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
Hypophosphatasia ALPL Adult hypophosphatasia, Infantile hypophosphatasia, Odontohypophosphatasia, Perinatal lethal hypophosphatasia, Childhood-onset hypophosphatasia, Prenatal benign hypophosphatasia Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Achondrogenesis / Kniest dysplasia / Hypochondrogenesis COL2A1 Achondrogenesis type 2, Hypochondrogenesis, Kniest dysplasia, Multiple epiphyseal dysplasia, Beighton type, Spondyloepiphyseal dysplasia congenita, Stickler syndrome type 1 Centrum Medische Genetica - UZ Gent
Immune deficiency with hyperIgM, type 3 CD40 Hyper-IgM syndrome type 3 Centrum Menselijke Erfelijkheid - KUL
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