Neuromuscular channelopathies (26-gene panel, NGS)
Code: 10017
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(26 genes)
- AGRN
- ATP2A1
- CACNA1A
- CACNA1S
- CHRNA1
- CHRNA2
- CHRNA4
- CHRNB1
- CHRNB2
- CHRND
- CHRNE
- CLCN1
- COL6A3
- DMPK
- GAA
- GBE1
- KCNJ18
- KCNJ2
- KCNT1
- PNKP
- RYR1
- SCN1A
- SCN4A
- SCN8A
- SLC25A22
- SPTAN1