Genetic tests

Full name Analytes Gene panels Disease Laboratory
Alpha-1-antitrypsin deficiency (2 hot sopt mutations / p.Glu366Lys; p.Glu288Val ) SERPINA1 Alpha-1-antitrypsin deficiency Centrum Menselijke Erfelijkheid - KUL
Alpha-1-antitrypsin deficiency (hot spot mutations - p.Glu342Lys (allele PI-Z), p. Glu264Val (allele PI-S)) SERPINA1 Alpha-1-antitrypsin deficiency Centre de Génétique Humaine - CHU Sart-Tilman
Lymphoproliferative syndrome, X-linked (SH2D1A gene) / Duncan's disease SH2D1A X-linked lymphoproliferative disease, X-linked lymphoproliferative disease due to SH2D1A deficiency Centrum Menselijke Erfelijkheid - KUL
Lymphoproliferative syndrome, X-linked (XIAP gene) XIAP X-linked lymphoproliferative disease, X-linked lymphoproliferative disease due to XIAP deficiency Centrum Menselijke Erfelijkheid - KUL
Schinzel-Giedion midface retraction syndrome SETBP1 Intellectual disability-expressive aphasia-facial dysmorphism syndrome, Schinzel-Giedion syndrome Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Spinocerebellar ataxia (types 1, 2, 3, 6, 7) - CAG repeat expansion ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7 Spinocerebellar ataxia (types 1, 2, 3, 6, 7) (5 genes) - KUL Spinocerebellar ataxia type 1, Spinocerebellar ataxia type 2, Machado-Joseph disease type 3, Spinocerebellar ataxia type 6, Spinocerebellar ataxia type 7 Centrum Menselijke Erfelijkheid - KUL
Spinocerebellar ataxia (types 1, 2, 3, 6, 7, 17) - CAG repeat expansion ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP Spinocerebellar ataxia (types 1, 2, 3, 6, 7, 17) (6 genes) - IPG Spinocerebellar ataxia type 1, Spinocerebellar ataxia type 2, Machado-Joseph disease type 3, Spinocerebellar ataxia type 6, Spinocerebellar ataxia type 7, Spinocerebellar ataxia type 17 Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Spinocerebellar ataxia (SCA) types 1, 2, 3, 6, 7 - CAG repeat expansion ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7 Spinocerebellar ataxia (types 1, 2, 3, 6, 7) (5 genes) - UZA Spinocerebellar ataxia type 1, Spinocerebellar ataxia type 2, Machado-Joseph disease type 3, Spinocerebellar ataxia type 6, Spinocerebellar ataxia type 7 Centrum Medische Genetica - UZ Antwerpen
Spinocerebellar ataxia (types 1, 2, 3, 6, 7) - CAG repeat expansion ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7 Spinocerebellar ataxia (types 1, 2, 3, 6, 7) (5 genes) - VUB Spinocerebellar ataxia type 1, Spinocerebellar ataxia type 2, Machado-Joseph disease type 3, Spinocerebellar ataxia type 6, Spinocerebellar ataxia type 7 Centrum Medische Genetica - UZ Brussel VUB
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