Anophthalmia, microphthalmia and anterior segment dysgenesis (25-gene panel, NGS)
Code: 10083
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(25 genes)
- BCOR
- BMP4
- COL4A1
- CYP1B1
- FOXC1
- FOXE3
- FRAS1
- FREM1
- FREM2
- GRIP1
- HCCS
- MFRP
- NDP
- OTX2
- PAX6
- PITX2
- PITX3
- RBP4
- SMOC1
- SOX2
- STRA6
- TUBGCP4
- TUBGCP6
- VAX1
- VSX2