Table 1. Detailed sequential analysis of 961 suspected DMD patients leading to confirmed mutational status.
MPCR status | MLPA status | NGS Status | Mutation status | Number of patients |
---|---|---|---|---|
Negative | Negative | NGS Done | No variant | 16 |
Negative | Negative | NGS Done | DMD | 98 |
Negative | Negative | NGS Done | DMD/BMD | 2 |
Negative | Negative | NGS Done | BMD | 1 |
Negative | Negative | NGS Done | OMD | 100 |
Negative | Negative | NGS Done | Other disorders | 29 |
Negative | Positive | DMD | Single Exon Deletion | 11 |
Negative | Positive | DMD | Single Exon Duplication | 24 |
Negative | Positive | DMD | Contiguous Deletion | 4 |
Negative | Positive | DMD | Contiguous Duplication | 29 |
Negative | Positive | BMD | Single Exon Deletion | 3 |
Negative | Positive | BMD | Single Exon Duplication | 1 |
Negative | Positive | BMD | Contiguous Duplication | 11 |
Negative | Positive | Cannot Comment | 1 | |
Negative | Positive | Non-Contiguous Duplication | 7 | |
Negative | Positive | Non-Contiguous Deletion & Duplication | 1 | |
Positive | BNC | MLPA Done | DMD-Single Exon Deletion | 7 |
Positive | BNC | MLPA Done | DMD-Contiguous Deletion | 117 |
Positive | BNC | MLPA Done | BMD-Single Exon Deletion | 1 |
Positive | BNC | MLPA Done | BMD-Contiguous Deletion | 33 |
Positive | BNC | MLPA Done | Cannot Comment | 3 |
Positive | DMD | Single Exon | 117 | |
Positive | DMD | Contiguous Deletion | 304 | |
Positive | BMD | Single Exon | 2 | |
Positive | BMD | Contiguous Deletion | 26 | |
Positive | Non-Contiguous Deletion | MLPA Done | Non-Contiguous Deletion | 2 |
Positive | Non-Contiguous Deletion | MLPA Done | Contiguous Deletion | 8 |
Positive | Cannot Comment | MLPA Done | Contiguous Deletion | 1 |
Positive | Cannot Comment | MLPA Done | promoter regions | 1 |
Positive | Cannot Comment | 1 | ||
Total | 961 |