Congenital central hypoventilation syndrome (18-gene panel, NGS)
Code: 10031
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(18 genes)
- ASCL1
- BDNF
- CHAT
- CHRNA1
- CHRNB1
- CHRND
- CHRNE
- COLQ
- EDN3
- GDNF
- GLRA1
- MECP2
- PHOX2B
- RAPSN
- RET
- SCN4A
- SLC6A5
- ZEB2