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
Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure (hot spot mutation - 1555A-G in MT-RNR1) MT-RNR1 Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure (hot spot mutation - 1555A-G in MT-RNR1) MT-RNR1 Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure Centrum Medische Genetica - UZ Antwerpen
Hypercholesterolemia (9 genes) LDLR, APOB, PCSK9, ABCG5, ABCG8, APOE, LDLRAP1, LIPA, STAP1 Hypercholesterolemia (9 genes) - UCL Homozygous familial hypercholesterolemia Centre de Génétique Médicale UCL
Hypercholesterolemia, Familial (9 genes) LDLR, APOB, APOE, PCSK9, ABCG5, ABCG8, LDLRAP1, LIPA, STAP1 Familial Hypercholesterolemia panel (9 genes) - ULG Homozygous familial hypercholesterolemia, Heterozygous familial hypercholesterolemia (NON RARE IN EUROPE), Sitosterolemia, Cholesteryl ester storage disease Centre de Génétique Humaine - CHU Sart-Tilman
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