Holoprosencephaly (12-gene panel, NGS)
Code: 11033
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(12 genes)
- CDON
- FGF8
- FGFR1
- FOXH1
- GLI2
- GLI3
- NODAL
- PTCH1
- SHH
- SIX3
- TGIF1
- ZIC2