Genetic tests

Full name Analytes Gene panels Disease Laboratory
Von Willebrand disease VWF Von Willebrand disease type 1, Von Willebrand disease type 2A, Von Willebrand disease type 2M, Von Willebrand disease type 2B, Von Willebrand disease type 2N, Von Willebrand disease type 3 Centrum Medische Genetica - UZ Antwerpen
Achondroplasia (hot spot mutation - p.Glu380Arg in FGFR3 gene) FGFR3 Achondroplasia Centrum Medische Genetica - UZ Gent
Craniosynostosis, Muenke syndrome (hot spot mutation - p.Pro250 in FGFR3 gene ) FGFR3 Muenke syndrome Centrum Medische Genetica - UZ Gent
Hypochondroplasia (hot spot mutations - p.Asn540; p.Ile538; p.Lys650 FGFR3) FGFR3 Hypochondroplasia Centrum Medische Genetica - UZ Gent
Thanatophoric dysplasia (hot spot mutations - p.Arg248 / p.Gly370 / p.Ser371 / p.Tyr373 / p.Lys650 / p.X806 in FGFR3 gene) FGFR3 Thanatophoric dysplasia type 2, Thanatophoric dysplasia type 1 Centrum Medische Genetica - UZ Gent
Achondroplasia (hot spot mutation - p.Gly380) FGFR3 Achondroplasia Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Craniosynostosis, Muenke syndrome (hot spot mutation - p.Pro250Arg) FGFR3 Muenke syndrome Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hypochondroplasia (hot spot mutation - p.Asn540) FGFR3 Hypochondroplasia Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Thanatophoric dysplasia types 1 and 2 (hot spot mutation - p.Lys650Glu) FGFR3 Thanatophoric dysplasia type 1, Thanatophoric dysplasia type 2 Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Achondroplasia (hot spot mutation - p.Gly380) FGFR3 Achondroplasia Centrum Medische Genetica - UZ Antwerpen
Craniosynostosis, Muenke syndrome (hot spot mutation - p.Pro250Arg) FGFR3 Muenke syndrome Centrum Medische Genetica - UZ Antwerpen
Hypochondroplasia (hot spot mutation - p.Asn540Lys) FGFR3 Hypochondroplasia Centrum Medische Genetica - UZ Antwerpen
Hypochondroplasia (full sequencing) FGFR3 Hypochondroplasia Centrum Medische Genetica - UZ Antwerpen
Thanatophoric dysplasia (hot spot mutations - p.Tyr373Cys, p.Arg248Cys, p.Ser249Cys) FGFR3 Thanatophoric dysplasia type 1, Thanatophoric dysplasia type 2 Centrum Medische Genetica - UZ Antwerpen
Achondroplasia (hot spot mutation - p.Gly380) FGFR3 Achondroplasia Centre de Génétique Humaine - Erasme ULB
Hypochondroplasia (full sequencing) FGFR3 Hypochondroplasia 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
Craniosynostosis / Muenke syndrome (hot spot mutation - p.Pro250Arg) FGFR3 Muenke syndrome Centre de Génétique Humaine - CHU Sart-Tilman
Craniosynostosis / Crouzon syndrome (hot spot mutation - exon 9) FGFR3 Crouzon syndrome Centre de Génétique Humaine - CHU Sart-Tilman
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