Thanatophoric Dysplasia (Type I & II)
| Test Information | |
|---|---|
| Test Name | Thanatophoric Dysplasia (Type I & II) |
| Lab (Location) | The Hospital for Sick Children |
| Category | Skeletal/growth |
| Subcategory | Thanatophoric Dysplasia |
| Gene/Platform/Region List | 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 of FGFR2, FGFR3 and TWIST1 |
| Diseases/Conditions | Skeletal Dysplasias: Thanatophoric Dysplasia |