Genetic tests

Full name Analytes Gene panels Disease Laboratory
Coagulopathies (2 genes) ITGA2B, ITGB3 Autosomal dominant macrothrombocytopenia, Glanzmann thrombasthenia, Fetal and neonatal alloimmune thrombocytopenia Centre de Génétique Médicale UCL
Arterial Tortuosity Syndrome SLC2A10, EFEMP2 Arterial tortuosity syndrome Centrum Medische Genetica - UZ Gent
Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4 SMN1, SMN2 Proximal spinal muscular atrophy type 1, Proximal spinal muscular atrophy type 2, Proximal spinal muscular atrophy type 3, Proximal spinal muscular atrophy type 4 Centrum Menselijke Erfelijkheid - KUL
Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4 SMN1, SMN2 Proximal spinal muscular atrophy type 1, Proximal spinal muscular atrophy type 2, Proximal spinal muscular atrophy type 3, Proximal spinal muscular atrophy type 4 Centre de Génétique Médicale UCL
Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4 SMN1, SMN2 Proximal spinal muscular atrophy type 1, Proximal spinal muscular atrophy type 2, Proximal spinal muscular atrophy type 3, Proximal spinal muscular atrophy type 4 Centrum Medische Genetica - UZ Gent
Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4 SMN1, SMN2 Proximal spinal muscular atrophy type 1, Proximal spinal muscular atrophy type 2, Proximal spinal muscular atrophy type 3, Proximal spinal muscular atrophy type 4 Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4 SMN1, SMN2 Proximal spinal muscular atrophy type 1, Proximal spinal muscular atrophy type 2, Proximal spinal muscular atrophy type 3, Proximal spinal muscular atrophy type 4 Centrum Medische Genetica - UZ Antwerpen
Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4 SMN1, SMN2 Proximal spinal muscular atrophy type 1, Proximal spinal muscular atrophy type 2, Proximal spinal muscular atrophy type 3, Proximal spinal muscular atrophy type 4 Centre de Génétique Humaine - Erasme ULB
Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4 (SMN1 & SMN2 genes) SMN1, SMN2 Proximal spinal muscular atrophy type 1, Proximal spinal muscular atrophy type 2, Proximal spinal muscular atrophy type 3, Proximal spinal muscular atrophy type 4 Centrum Medische Genetica - UZ Brussel VUB
Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4 SMN1, SMN2 Proximal spinal muscular atrophy type 1, Proximal spinal muscular atrophy type 2, Proximal spinal muscular atrophy type 3, Proximal spinal muscular atrophy type 4 Centre de Génétique Humaine - CHU Sart-Tilman
Immune deficiency with hyperIgM, type 3 CD40 Hyper-IgM syndrome type 3 Centrum Menselijke Erfelijkheid - KUL
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