Genetic tests

Full name Analytes Gene panels Disease Laboratory
X-linked hydrocephalia / CRASH (corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus) syndrome (L1CAM gene) L1CAM Hydrocephalus with stenosis of the aqueduct of Sylvius Centrum Medische Genetica - UZ Brussel VUB
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
Chronic granulomatous disease, X-linked CYBB Chronic granulomatous disease, X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency Centrum Menselijke Erfelijkheid - KUL
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
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