Genetic Test Details
Achondroplasia / Hypochondroplasia
Test Information
- Titre
-
Achondroplasia / Hypochondroplasia
- Catégorie
- Skeletal\Growth
- Sub Category
-
Achondroplasia and Hypochondroplasia
- Gene/Platform/Region List
-
FGFR1, FGFR2, FGFR3, TWIST1
- Test type
- Gene Panel
- Samples Accepted
- Blood , DNA
- Indications
- Diagnostics , Prenatal
- Test Methodology
- CNV , Sequencing
- Methodology Notes
-
Gene sequencing (Sanger- Robot); Targeted sanger sequencing; MLPA
- Disease/Condition
-
Skeletal dysplasia, Achondroplasia, Hypochondroplasia
Dernière Mise à Jour: 18 juin 2025