Achondroplasia / Hypochondroplasia
| Test Information | |
|---|---|
| Test Name | Achondroplasia / Hypochondroplasia |
| Lab (Location) | The Hospital for Sick Children |
| Category | Skeletal/growth |
| Subcategory | Achondroplasia and Hypochondroplasia |
| Gene/Platform/Region List | FGFR1, FGFR2, FGFR3, TWIST1 |
| Test type | Gene Panel |
| Samples Accepted | Blood, DNA |
| Indications Diagnosis | Diagnosis, Prenatal |
| Test Methodology | CNV, Sequencing |
| Methodology Notes | Gene sequencing (Sanger- Robot); Targeted sanger sequencing; MLPA |
| Diseases/Conditions | Skeletal dysplasia, Achondroplasia, Hypochondroplasia |