Genetic tests

Full name Analytes Gene panels Disease Laboratory
Fabry disease GLA Fabry disease Centrum Medische Genetica - UZ Gent
Fabry disease GLA Fabry disease Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Enzymatic dosage Fabry disease Fabry disease Centrum Medische Genetica - UZ Brussel VUB
Leber hereditary optic neuropathy (LHON) – (DNAJC30 gene) DNAJC30 Leber hereditary optic neuropathy Centrum Medische Genetica - UZ Brussel VUB
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
Congenital disorder of glycosylation (3 genes) Congenital disorder of glycosylation (3 genes) - KUL PMM2-CDG, ALG6-CDG, Congenital disorder of glycosylation Centrum Menselijke Erfelijkheid - KUL
Macular dystrophy PRPH2 Butterfly-shaped pigment dystrophy Centrum Medische Genetica - UZ Gent
Microphthalmia, syndromic 5; Retinal dystrophy, early-onset, and pituitary dysfunction OTX2 Syndromic microphthalmia type 5, Combined pituitary hormone deficiencies, genetic forms, Butterfly-shaped pigment dystrophy Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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