Achromatopsia (38-gene panel, NGS)
Code: 10139
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(38 genes)
- ABCA4
- ADAM9
- AIPL1
- ATF6
- C21orf2
- C8orf37
- CABP4
- CACNA1F
- CACNA2D4
- CDHR1
- CEP290
- CERKL
- CNGA3
- CNGB3
- CNNM4
- CRX
- GNAT2
- GUCA1A
- GUCY2D
- IFT81
- KCNV2
- PDE6C
- PDE6H
- PITPNM3
- POC1B
- PROM1
- PRPH2
- RAB28
- RAX2
- RDH5
- RGS9
- RGS9BP
- RIMS1
- RPGR
- RPGRIP1
- SEMA4A
- TTLL5
- UNC119