Spinal muscular atrophy (SMA) (6-gene panel, NGS)
Code: 10322
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(6 genes)
- PLEKHG5
- ATP7A
- IGHMBP2
- UBA1
- DYNC1H1
- TRPV4