NL
CNBP - myotonic dystrophy type 2 (PROMM, ZNF9)
This test is available for the following conditions:
- Conditions > Neuromuscular > Myotonic Dystrophy
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Analysis of the number of repeats using fragment length analysis of (triple primed) PCR product and if necessary followed by Southern blot analysis
OMIM:
116955
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
DMPK - myotonic dystrophy type 1
This test is available for the following conditions:
- Conditions > Neuromuscular > Myotonic Dystrophy
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Analysis of the number of repeats using fragment length analysis of (triple primed) PCR product and if necessary followed by Southern blot analysis
OMIM:
605377
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
