Genetic tests

Full name Analytes Gene panels Disease Laboratory
Neurofibromatosis type 1 / Legius syndrome (2 genes) NF1, SPRED1 Neurofibromatosis type 1, Legius syndrome Centrum Menselijke Erfelijkheid - KUL
Neurofibromatosis type I NF1 Neurofibromatosis type 1 Centre de Génétique Médicale UCL
Neurofibromatosis type 1 / Legius syndrome NF1, SPRED1 Neurofibromatosis type 1, Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion, 17q11 microdeletion syndrome, Legius syndrome Centrum Medische Genetica - UZ Gent
Periodic paralysis (myotonia) / Paramyotonia congenita (SCN4A gene) SCN4A Hyperkalemic periodic paralysis, Hypokalemic periodic paralysis 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
Dicer1 tumor predisposition syndrome DICER1 Familial multinodular goiter, DICER1 tumor-predisposition syndrome, Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome, Malignant Sertoli-Leydig cell tumor of the ovary, Maligant granulosa cell tumor of the ovary, Gynandroblastoma Centrum Medische Genetica - UZ Gent
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