SELENON (SEPN1) - rigid-spine muscular dystrophy type1
This test is available for the following conditions:
- Conditions > Neuromuscular > Rigid Spine Muscular Dystrophy
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
602771
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane