Genetic Test Details
Achondroplasia / Hypochondroplasia
Test Information
- Title
- Achondroplasia / Hypochondroplasia
- Category
- Skeletal\Growth
- Sub Category
- Achondroplasia and Hypochondroplasia
- Gene/Platform/Region List
- FGFR1, FGFR2, FGFR3, TWIST1
- Test type
- Gene Panel
- Samples Accepted
- DNA , Blood
- Indications
- Diagnosis , Prenatal
- Test Methodology
- Sequencing , CNV
- Methodology Notes
- Gene sequencing (Sanger- Robot); Targeted sanger sequencing; MLPA
- Disease/Condition
- Skeletal dysplasia, Achondroplasia, Hypochondroplasia
Last Updated: June 23, 2025