Genetic tests

Full name Analytes Gene panels Disease Laboratory
Septo-optic dysplasia HESX1 Septo-optic dysplasia spectrum Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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
Congenital generalized lipodystrophy type 2 / Spastic paraplegia-17 / Hereditary motor neuronopathy type VA / Silver spastic paraplegia syndrome (hot spot mutation - p.Asn88Ser; p.Ser90; p.Arg96His) BSCL2 Autosomal dominant spastic paraplegia type 17, Severe neurodegenerative syndrome with lipodystrophy, Distal hereditary motor neuropathy type 5, Congenital generalized lipodystrophy Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Medulloblastoma (gene panel) SUFU, TP53, PTCH1 Medulloblastoma (3 genes) - KUL Medulloblastoma Centrum Menselijke Erfelijkheid - KUL
Medulloblastoma (3 genes) PTCH1, PTCH2, SUFU Medulloblastoma (3 genes) - UCL Medulloblastoma , Gorlin syndrome Centre de Génétique Médicale UCL
Download XLSX
Download PDF