Thanatophoric Dysplasia (Type I & II)
Test Information
- Titre
-
Thanatophoric Dysplasia (Type I & II)
- Catégorie
- Skeletal growth
- Test Name (CMS Title)
-
Thanatophoric Dysplasia
- Gene/Platform/Region List
-
FGFR2, FGFR3, TWIST1
- Test type
- Samples Accepted
- Blood, DNA
- Indications
- Diagnostics
- Test Methodology
- Sequencing
- Methodology Notes
-
Gene Sequencing (Sanger - Robot); Targeted Sanger Sequencing; MLPA of FGFR2, FGFR3 and TWIST1
- Disease/Condition
-
Skeletal Dysplasias: Thanatophoric Dysplasia
Dernière Mise à Jour: 09 décembre 2025