Genetic tests

Full name Analytes Gene panels Disease Laboratory
Carnitine Palmitoyltransferase type II CPT2 Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, neonatal form Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Carnitine Palmitoyl transferase type II CPT2 Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, myopathic form Centrum Medische Genetica - UZ Antwerpen
Familial Thoracic Aortic Aneurysm (gene panel) Familial Thoracic Aortic Aneurysm (21 genes) - UGent Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome Centrum Medische Genetica - UZ Gent
Aneurysm, Thoracic Aortic, familial (gene panel) Familial Thoracic Aortic Aneurysm (genepanel) - UZA Familial thoracic aortic aneurysm and aortic dissection Centrum Medische Genetica - UZ Antwerpen
Spinocerebellar ataxia (SCA) types 8, 10, 12, 17 - repeat expansion ATXN8, ATXN10, PPP2R2B, TBP Spinocerebellar ataxia (type 8, 10, 12, 17) (4 genes) - UZA Spinocerebellar ataxia type 8, Spinocerebellar ataxia type 10, Spinocerebellar ataxia type 12, Spinocerebellar ataxia type 17 Centrum Medische Genetica - UZ Antwerpen
Alzheimer disease (gene panel) APP, PSEN1, PSEN2, APOE Early-onset autosomal dominant Alzheimer disease, Behavioral variant of frontotemporal dementia, Semantic dementia, Progressive non-fluent aphasia Centre de Génétique Humaine - Erasme ULB