Congenital myasthenic syndrome (CMS)
Genes Tested 36 Genes
- AGRN
- AK9
- ALG14
- ALG2
- CHAT
- CHD8
- CHRNA1
- CHRNB1
- CHRND
- CHRNE
- COL13A1
- COLQ
- DES
- DOK7
- DPAGT1
- GFPT1
- GMPPB
- LAMA5
- LAMB2
- LRP4
- MACF1
- MUSK
- MYO9A
- PLEC
- PREPL
- RAPSN
- RPH3A
- SCN4A
- SLC18A3
- SLC25A1
- SLC5A7
- SNAP25
- SYT2
- TOR1AIP1
- UNC13A
- VAMP1
For the following gene, a dosage analysis is also included.
Test Information
Test Code |
033.04 |
Genes Tested |
36 Genes |
Method(s) |
Next Generation Sequencing (NGS) |
Sample Requirements |
2-4 ml EDTA blood Please click here for more detailed information |
Turnaround Time |
3-6 weeks |