Chondrodysplasia punctata (9-gene panel, NGS)
Code: 10501
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(9 genes)
- AGPS
- ARSE
- CSTA
- GNPAT
- KRT6A
- KRT6B
- LBR
- PEX14
- PEX19