Congenital myasthenic syndrome (30-gene panel, NGS)
Code: 10018
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(30 genes)
- AGRN
- ALG14
- ALG2
- CHAT
- CHRNA1
- CHRNB1
- CHRND
- CHRNE
- CHRNG
- COL13A1
- COLQ
- DOK7
- DPAGT1
- FLAD1
- GFPT1
- LAMA5
- LAMB2
- LRP4
- MUSK
- MYO9A
- PLEC
- PREPL
- RAPSN
- SCN4A
- SLC18A3
- SLC25A1
- SLC5A7
- SNAP25
- STIM1
- SYT2