Osteopetrosis and high bone density disorders (29-gene panel, NGS)
Code: 11232
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(29 genes)
- AMER1
- ANKH
- CA2
- CLCN7
- COL1A1
- CTSK
- DLX3
- FAM20C
- GJA1
- HPGD
- LEMD3
- LRP4
- LRP5
- MTAP
- OSTM1
- PLEKHM1
- PTDSS1
- PTH1R
- SLC29A3
- SLCO2A1
- SNX10
- SOST
- TBXAS1
- TCIRG1
- TGFB1
- TNFRSF11A
- TNFRSF11B
- TNFSF11
- TYROBP