Genetic tests

Full name Analytes Gene panels Disease Laboratory
Achondroplasia (hot spot mutation - p.Glu380Arg in FGFR3 gene) FGFR3 Achondroplasia Centrum Medische Genetica - UZ Gent
Achondroplasia (hot spot mutation - p.Gly380) FGFR3 Achondroplasia Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Achondroplasia (hot spot mutation - p.Gly380) FGFR3 Achondroplasia Centrum Medische Genetica - UZ Antwerpen
Achondroplasia (hot spot mutation - p.Gly380) FGFR3 Achondroplasia Centre de Génétique Humaine - Erasme ULB
Achondroplasia (FGFR3 hot spot mutation - p.Gly380) FGFR3 Achondroplasia Centrum Medische Genetica - UZ Brussel VUB
Achondroplasia (hot spot mutation - p.Gly380Arg) FGFR3 Achondroplasia Centre de Génétique Humaine - CHU Sart-Tilman
Leber Congenital Amaurosis - Retinal dystrophy, early onset (gene panel) Leber Congenital Amaurosis - UGent Leber congenital amaurosis, Cone rod dystrophy, Retinitis pigmentosa, Senior-Loken syndrome, Severe early-childhood-onset retinal dystrophy Centrum Medische Genetica - UZ Gent
Temple syndrome / Kagami-Ogata Syndrome DLK1, MEG3, RTL1 Temple syndrome due to maternal uniparental disomy of chromosome 14, Temple syndrome due to paternal 14q32.2 hypomethylation, Temple syndrome due to paternal 14q32.2 microdeletion, Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14, Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation, Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion Centre de Génétique Médicale UCL
VEXAS-syndrome UBA1 VEXAS syndrome Centrum Medische Genetica - UZ Gent