Gene symbol | Test method | Mutations detected | Mutation detection rate by test method* | |||
DMD | BMD | |||||
Affected males | Heterozygous females¶ | Affected males | Heterozygous females¶ | |||
DMD | Deletion/duplication analysisΔ | Deletion of one or more exons or the whole gene | ~50-65% | ~50-65% | ~65-70% | Unknown |
Duplication of one or more exons | ~5-10% | ~5-10% | ~5-10% | Unknown | ||
Sequence analysis/mutation scanning◊ | Point mutations (sequence variants)§ | ~20-35%¥ | ~25-35%‡ | ~20-30%¥ | Unknown |
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