Genetic tests

Full name Analytes Gene panels Disease Laboratory
Leber hereditary optic neuropathy (LHON) (hot spot mutations - p.Ala53Thr in MT-ND1; p.Arg340His in MT-ND4; p.Met64Val in MT-ND6) MT-ND1, MT-ND4, MT-ND6 Leber hereditary optic neuropathy Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Leber hereditary optic neuropathy (LHON) (hot spot mutations - p.Ala53Thr in MT-ND1; p.Arg340His in MT-ND4; p.Met64Val in MT-ND6) MT-ND1, MT-ND4, MT-ND6 LHON (3 genes) - VUB Leber hereditary optic neuropathy Centrum Medische Genetica - UZ Brussel VUB
Huntington disease - CAG repeat expansion HTT Huntington disease Centre de Génétique Médicale UCL
Huntington disease - CAG repeat expansion HTT Huntington disease Centrum Medische Genetica - UZ Gent
Huntington disease - CAG repeat expansion HTT Huntington disease Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Huntington disease - CAG repeat expansion HTT Huntington disease Centrum Medische Genetica - UZ Antwerpen
Huntington disease - CAG repeat expansion HTT Huntington disease Centre de Génétique Humaine - Erasme ULB
Huntington disease - HTT gene CAG repeat expansion HTT Huntington disease Centrum Medische Genetica - UZ Brussel VUB
Huntington disease - CAG repeat expansion HTT Huntington disease Centre de Génétique Humaine - CHU Sart-Tilman
Huntington disease - CAG repeat expansion HTT Huntington disease Centrum Menselijke Erfelijkheid - KUL
X-linked hydrocephalia / CRASH (corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus) syndrome (L1CAM gene) L1CAM Hydrocephalus with stenosis of the aqueduct of Sylvius Centrum Medische Genetica - UZ Brussel VUB
Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome FOXP3 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Centrum Menselijke Erfelijkheid - KUL
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