Genetic tests

Full name Analytes Gene panels Disease Laboratory
Dentatorubral pallidoluysian atrophy (DRPLA) - CAG repeat expansion ATN1 Dentatorubral pallidoluysian atrophy Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Dentatorubral pallidoluysian atrophy (DRPLA) - CAG repeat expansion ATN1 Dentatorubral pallidoluysian atrophy Centrum Medische Genetica - UZ Antwerpen
Dentatorubral pallidoluysian atrophy - ATN1 gene CAG repeat expansion ATN1 Dentatorubral pallidoluysian atrophy Centrum Medische Genetica - UZ Brussel VUB
Spinocerebellar ataxia (type 8, 17) + Dentatorubral pallidoluysian atrophy - repeat expansion ATXN8, TBP, ATN1 Spinocerebellar ataxia (type 8, 17 + ATN1) (5 genes) - VUB Spinocerebellar ataxia type 8, Spinocerebellar ataxia type 17, Dentatorubral pallidoluysian atrophy Centrum Medische Genetica - UZ Brussel VUB
Waardenburg Syndrome types I and III PAX3 Waardenburg syndrome type 1, Waardenburg syndrome type 3 Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Waardenburg syndrome (gene panel) EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10 Waardenburg syndrome (6 genes) - UZA Waardenburg syndrome type 1, Waardenburg syndrome type 2, Waardenburg syndrome type 3, Waardenburg-Shah syndrome Centrum Medische Genetica - UZ Antwerpen
Capillary malformation - arteriovenous malformation (2 genes) RASA1, EPHB4 Capillary/arteriovenous malformation (2 genes) - UCL, Vascular malformations (germline) (38 genes) - UCL Capillary malformation-arteriovenous malformation, Vein of Galen aneurysmal malformation, Parkes Weber syndrome Centre de Génétique Médicale UCL
Arteriovenous malformation (gene panel) Arteriovenous malformation (7 genes), Vascular malformations (germline) (38 genes) - UCL Hereditary hemorrhagic telangiectasia, Heritable pulmonary arterial hypertension, Familial cerebral saccular aneurysm, Vein of Galen aneurysmal malformation, Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome, Capillary malformation-arteriovenous malformation, Parkes Weber syndrome, Microcephaly-capillary malformation syndrome 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 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
Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4 (Full sequencing) SMN1 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
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