Myotonic Dystrophy

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

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