Table 8.
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 |
*Availability includes in-house as well as external genetic testing.