Osteogenesis imperfecta (40-gene panel, NGS)
Code: 11217
The availability and turnaround time of this test should be confirmed with the unit before collection.
- Method
- Next-generation sequencing (NGS)
- Collection requirements
- EDTA: Blood (10 mL)
- Sample stability
- Refrigerated at 2-8 °C
- Turnaround time
- 33 working days
- Preparation and notes
- IMPORTANT: Samples for this test should only be collected Monday to Thursday and never on the day before a public holiday. Clinical history and family history are mandatory.
Genes tested(40 genes)
- AGPS
- ALPL
- ARSE
- B3GAT3
- B4GALT7
- BMP1
- CLCN5
- COL1A1
- COL1A2
- COL2A1
- CREB3L1
- CRTAP
- DLL3
- DYNC2H1
- EVC
- EVC2
- FGF23
- FGFR2
- FGFR3
- FKBP10
- FLNB
- GNPAT
- IFITM5
- LRP5
- NEK1
- P3H1
- PLOD2
- PLS3
- PPIB
- SEC24D
- SERPINF1
- SERPINH1
- SLC26A2
- SLC34A3
- SOX9
- SP7
- SPARC
- TMEM38B
- TRIP11
- WNT1