Congenital stationary night blindness (7-gene panel, NGS)
Code: 10075
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(7 genes)
- GNAT1
- GNB3
- GPR179
- GRM6
- ITM2B
- LRIT3
- NYX