Skeletal dysplasia with abnormal mineralization (32-gene panel, NGS)
Code: 10690
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(32 genes)
- ALPL
- ANKH
- B4GALT7
- CASR
- CLCN5
- COL1A1
- COL1A2
- COL3A1
- COL5A1
- COL5A2
- CRTAP
- CYP27B1
- FBN1
- FGF23
- FKBP10
- GALNT3
- MGP
- P3H1
- PHEX
- PLOD2
- PLS3
- PPIB
- PTDSS1
- SERPINF1
- SLC34A3
- SLC39A13
- SNX10
- SOX9
- TNFRSF11A
- TNFRSF11B
- VDR
- WNT10A