Genetic tests

Full name Analytes Gene panels Disease Laboratory
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
Beckwith-Wiedemann syndrome 11p15.5 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15, Beckwith-Wiedemann syndrome due to 11p15 microdeletion Centre de Génétique Médicale UCL
Beckwith-Wiedemann syndrome (11p15 methylation) H19, KCNQ1OT1, IGF2 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15, Beckwith-Wiedemann syndrome Centrum Menselijke Erfelijkheid - KUL
Pituitary adenoma (4 genes) MEN1, AIP, CDKN1B, PRKAR1A Pituitary adenoma (4 genes) - ULG Familial isolated pituitary adenoma, Silent pituitary adenoma, Null pituitary adenoma, Multiple endocrine neoplasia type 1, Multiple endocrine neoplasia type 4, Carney complex Centre de Génétique Humaine - CHU Sart-Tilman
Pituitary adenoma (5 genes) AIP, CDKN1B, MEN1, RET, PRKAR1A Pituitary adenoma (5 genes) - UCL Familial isolated pituitary adenoma, Silent pituitary adenoma, Null pituitary adenoma, Prolactinoma, Pituitary gigantism, Acromegaly Centre de Génétique Médicale UCL
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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