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Table 8 Techniques available for the diagnosis of DMD and SMA*

From: The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases

Availability of specific diagnostic techniques
  DMD SMA
Limited deletion MLPA Point mutation Muscle biopsy SMA deletion Point mutation Copy number
Available, funded 176 149 137 173 163 116 98
Available, not funded 35 42 51 37 37 40 52
Not available 13 21 33 13 8 40 42
  1. *Availability includes in-house as well as external genetic testing.