Genetic tests

Full name Analytes Gene panels Disease Laboratory
Silver-Russell syndrome 11p15.5, 7p12.1, 7q32.2 Silver-Russell syndrome, Silver-Russell syndrome due to an imprinting defect of 11p15, Silver-Russell syndrome due to 11p15 microduplication Centre de Génétique Médicale UCL
Uniparental disomy 7p12.1, 7q32.2 Silver-Russell syndrome Centre de Génétique Médicale UCL
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
X-linked agammaglobulinemia BTK X-linked agammaglobulinemia Centrum Menselijke Erfelijkheid - KUL
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
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