Craniosynostosis (28-gene panel, NGS)
Code: 3306
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(28 genes)
- CYP26B1
- EFNB1
- ERF
- FAM20C
- FGFR1
- FGFR2
- FGFR3
- FREM1
- GLI3
- HUWE1
- IFT122
- IFT43
- IL11RA
- KAT6A
- MEGF8
- MSX2
- POR
- RAB23
- RECQL4
- RUNX2
- SKI
- TCF12
- TGFBR1
- TGFBR2
- TMCO1
- TWIST1
- WDR19
- WDR35