Genetic tests

Full name Analytes Gene panels Disease Laboratory
Dysautonomia, familial (FD) (hot spot mutation - c.2204+6T>C) ELP1 Familial dysautonomia Centrum Medische Genetica - UZ Antwerpen
Hemophilia B F9 Hemophilia B, Severe hemophilia B, Moderate hemophilia B, Mild hemophilia B, Bleeding disorder in hemophilia B carriers Centre de Génétique Médicale UCL
Hemophilia B F9 Hemophilia B, Severe hemophilia B, Moderate hemophilia B, Mild hemophilia B, Bleeding disorder in hemophilia B carriers Centrum Menselijke Erfelijkheid - KUL
Lissencephaly 3 TUBA1A Lissencephaly due to TUBA1A mutation Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Lissencephaly (Tubulin alpha 1A gene) TUBA1A Lissencephaly due to TUBA1A mutation Centrum Medische Genetica - UZ Brussel VUB
Malformations of cortical development (235 genes) Malformations of cortical development (235 genes) - VUB Bilateral perisylvian polymicrogyria, Cobblestone lissencephaly without muscular or ocular involvement, Lissencephaly due to LIS1 mutation, Lissencephaly due to TUBA1A mutation, Lissencephaly syndrome, Norman-Roberts type, Lissencephaly type 1 due to doublecortin gene mutation, Microlissencephaly, Polymicrogyria due to TUBB2B mutation, Subcortical band heterotopia, X-linked lissencephaly with abnormal genitalia Centrum Medische Genetica - UZ Brussel VUB
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
Beckwith-Wiedemann syndrome (11p15 methylation) H19, KCNQ1OT1, IGF2 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15, Beckwith-Wiedemann syndrome Centrum Menselijke Erfelijkheid - KUL
Download XLSX
Download PDF