Leber congenital amaurosis (21-gene panel, NGS)
Code: 10223
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(21 genes)
- AIPL1
- CABP4
- CEP290
- CRB1
- CRX
- GDF6
- GUCY2D
- IMPDH1
- IQCB1
- KCNJ13
- LCA5
- LRAT
- NMNAT1
- OTX2
- PRPH2
- RD3
- RDH12
- RPE65
- RPGRIP1
- SPATA7
- TULP1