Genetic tests

Full name Analytes Gene panels Disease Laboratory
Hypochondroplasia (hot spot mutations - p.Asn540; p.Ile538; p.Lys650 FGFR3) FGFR3 Hypochondroplasia Centrum Medische Genetica - UZ Gent
Hypochondroplasia (hot spot mutation - p.Asn540) FGFR3 Hypochondroplasia Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hypochondroplasia (hot spot mutation - p.Asn540Lys) FGFR3 Hypochondroplasia Centrum Medische Genetica - UZ Antwerpen
Hypochondroplasia (full sequencing) FGFR3 Hypochondroplasia Centrum Medische Genetica - UZ Antwerpen
Hypochondroplasia (full sequencing) FGFR3 Hypochondroplasia Centre de Génétique Humaine - Erasme ULB
Hypochondroplasia (Hotspot mutation p.(Asn540Lys)) FGFR3 Hypochondroplasia Centre de Génétique Humaine - CHU Sart-Tilman
Sex determining region Y SRY 45,X/46,XY mixed gonadal dysgenesis, 46,XX ovotesticular difference of sex development, 46,XX testicular difference of sex development, 46,XY complete gonadal dysgenesis, 46,XY partial gonadal dysgenesis Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Sex determining region Y SRY 45,X/46,XY mixed gonadal dysgenesis, 46,XY complete gonadal dysgenesis, 46,XX ovotesticular difference of sex development, 46,XY partial gonadal dysgenesis, 46,XX testicular difference of sex development Centre de Génétique Humaine - CHU Sart-Tilman
Adams-Oliver syndrome (gene panel) ARHGAP31, DOCK6, RBPJ, NOTCH1, DLL4, EOGT Adams-Oliver (6 genes) - UZA Adams-Oliver syndrome Centrum Medische Genetica - UZ Antwerpen
Glycogen storage disease type 1a G6PC1 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia Centre de Génétique Humaine - CHU Sart-Tilman
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