Connective Tissue Disease: Osteogenesis Imperfecta Panel
| Test Information | |
|---|---|
| Test Name | Connective Tissue Disease: Osteogenesis Imperfecta Panel |
| Lab (Location) | The Hospital for Sick Children |
| Category | Connective Tissue |
| Subcategory | Osteogenesis Imperfecta |
| Gene/Platform/Region List | ALPL, BMP1, COL1A1, COL1A2, CRTAP, FKBP10, IFITM5, LRP5, MBTPS2, P3H1, PLOD2, PLS3, PPIB, SERPINF1, SERPINH1, SP7, SPARC, TMEM38B, WNT1, XYLT2 |
| Test type | Gene Panel |
| Samples Accepted | Blood, DNA |
| Indications Diagnosis | Diagnosis, Prenatal |
| Test Methodology | Sequencing |
| Methodology Notes | Exome |
| Diseases/Conditions | OI, Osteogenesis Imperfecta |