Neuronal ceroid lipofuscinosis (10-gene panel, NGS)
Code: 11096
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(10 genes)
- CLN3
- CLN5
- CLN6
- CLN8
- CTSD
- DNAJC5
- GRN
- MFSD8
- PPT1
- TPP1