Facial dysostosis (27-gene panel, NGS)
Code: 10746
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)
- ALPL
- ALX3
- ALX4
- CHD7
- CREBBP
- DHODH
- DLL3
- EFNB1
- EFTUD2
- EHMT1
- EP300
- EVC
- EVC2
- HDAC8
- HSPG2
- LIFR
- MYCN
- NIPBL
- POLR1C
- POLR1D
- SF3B4
- SMC1A
- SMC3
- SRCAP
- TCOF1
- TWIST1
- UBE2A