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 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
Autosomal dominant non-syndromic sensorineural deafness type DFNA9 (COCH partial sequencing) COCH Rare autosomal dominant non-syndromic sensorineural deafness type DFNA Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hearing loss (deafness), autosomal dominant 9 (COCH exons 4 and 5) COCH Rare autosomal dominant non-syndromic sensorineural deafness type DFNA Centrum Medische Genetica - UZ Antwerpen
Porencephaly / Hemorrhagic stroke / Cerebral small vessel disease / Idiopathic cerebral white matter lesions / HANAC / Isolated retinal arteriolar tortuosity COL4A1, COL4A2 Familial porencephaly, HANAC syndrome, Retinal arterial tortuosity Centrum Medische Genetica - UZ Gent
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
Silver-Russell syndrome 11p15.5, 7p12.1, 7q32.2 Silver-Russell syndrome, Silver-Russell syndrome due to an imprinting defect of 11p15, Silver-Russell syndrome due to 11p15 microduplication Centre de Génétique Médicale UCL