Osteogenesis imperfecta (13-gene panel, NGS)
Code: 11220
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(13 genes)
- COL1A1
- COL1A2
- CRTAP
- LEPRE1
- SERPINF1
- IFITM5
- FKBP10
- PPIB
- SP7
- BMP1
- SERPINH1
- TMEM38B
- WNT1