Genetic tests

Full name Analytes Gene panels Disease Laboratory
Torsion dystonia 1 (DYT1) (hotspot mutation - c.907_909 delGAG) TOR1A Early-onset generalized limb-onset dystonia Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Torsion dystonia 1 (DYT1) (hot spot mutation - c.907_909delGAG) TOR1A Early-onset generalized limb-onset dystonia Centrum Menselijke Erfelijkheid - KUL
Torsion dystonia 1 (hot spot mutation - c.907_909delGAG) TOR1A Early-onset generalized limb-onset dystonia Centre de Génétique Humaine - Erasme ULB
Abacavir toxicity (HLA-B*57:01 genotyping) - Pharmacogenetics HLA-B Abacavir toxicity Centre de Génétique Humaine - CHU Sart-Tilman
Abacavir toxicity (HLA-B*57:01 genotyping) - Pharmacogenetics HLA-B Abacavir toxicity Centrum Medische Genetica - UZ Gent
Abacavir toxicity (HLA-B*57:01 genotyping) - Pharmacogenetics HLA-B Abacavir toxicity Centrum Medische Genetica - UZ Brussel VUB
Primary familial erythrocytosis or Primary familial congenital polycythemia EPOR Primary familial polycythemia Centre de Génétique Humaine - CHU Sart-Tilman
Congenital generalized lipodystrophy type 2 / Spastic paraplegia-17 / Hereditary motor neuronopathy type VA / Silver spastic paraplegia syndrome (hot spot mutation - p.Asn88Ser; p.Ser90; p.Arg96His) BSCL2 Autosomal dominant spastic paraplegia type 17, Severe neurodegenerative syndrome with lipodystrophy, Distal hereditary motor neuropathy type 5, Congenital generalized lipodystrophy Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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