Muscle disease with contractures and/or rigid spine
Genes Tested 26 Genes
- ACTA1
- CAPN3
- CFL2
- COL6A1
- COL6A2
- COL6A3
- DNM2
- EMD
- FHL1
- GAA
- KBTBD13
- KLHL40
- LAMA2
- LMNA
- NEB
- PIEZO2
- RAPSN
- RYR1
- SELENON
- SYNE1
- SYNE2
- TMEM43
- TNNT1
- TOR1AIP1
- TPM2
- TPM3
For the following gene, a dosage analysis is also included.
Test Information
Test Code |
043.01 |
Genes Tested |
26 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 |