Congenital cataract (46-gene panel, NGS)
Code: 10084
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(46 genes)
- AGK
- ALDH18A1
- BFSP1
- BFSP2
- CHMP4B
- CRYAA
- CRYAB
- CRYBA1
- CRYBA2
- CRYBA4
- CRYBB1
- CRYBB2
- CRYBB3
- CRYGB
- CRYGC
- CRYGD
- CRYGS
- CTDP1
- EPHA2
- ERCC6
- EYA1
- FOXE3
- FTL
- FYCO1
- GALK1
- GALT
- GCNT2
- GJA3
- GJA8
- HSF4
- LEPREL1
- LIM2
- LSS
- MAF
- MIP
- NHS
- PAX6
- PITX3
- PXDN
- SIL1
- SLC16A12
- SLC33A1
- TDRD7
- UNC45B
- VIM
- WFS1