Spondylometaphyseal dysplasia (27-gene panel, NGS)
Code: 10689
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(27 genes)
- ACAN
- ACP5
- B3GALT6
- BGN
- CANT1
- CHST3
- COL11A1
- COL11A2
- COL2A1
- DDR2
- DYM
- EIF2AK3
- HSPG2
- INPPL1
- KIF22
- LONP1
- MATN3
- MMP13
- NKX3-2
- PAPSS2
- PCYT1A
- RAB33B
- SLC39A13
- SMARCAL1
- TRAPPC2
- TRPV4
- WISP3