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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.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172