Osteogenesis imperfecta (19-gene panel, NGS)
Code: 3282
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 (5 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(19 genes)
- ALPL
- BMP1
- COL1A1
- COL1A2
- CREB3L1
- CRTAP
- FKBP10
- IFITM5
- LEPRE1
- LRP5
- P3H1
- PLOD2
- PLS3
- PPIB
- SERPINF1
- SERPINH1
- SP7
- TMEM38B
- WNT1