Optic atrophy (14-gene panel, NGS)
Code: 3300
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(14 genes)
- ACO2
- AFG3L2
- C12ORF65
- CISD2
- MFN2
- NR2F1
- OPA1
- OPA3
- RTN4IP1
- SLC25A46
- SPG7
- TIMM8A
- TMEM126A
- WFS1