Spinal muscular atrophy (28-gene panel, NGS)
Code: 10015
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(28 genes)
- AARS
- ASAH1
- ATP7A
- BICD2
- BSCL2
- CHCHD10
- DCTN1
- DNAJB2
- DYNC1H1
- EXOSC3
- EXOSC8
- FBXO38
- GARS
- HEXA
- HSPB1
- HSPB3
- HSPB8
- IGHMBP2
- LAS1L
- PLEKHG5
- REEP1
- SCO2
- SLC5A7
- SMN2
- TRPV4
- UBA1
- VAPB
- VRK1