Version July 2025
| Gene | Method | Proportion of probands with a pathogenic variant detectable by method |
| DMD | Sequence analysis* | 20 to 35% |
| Gene-targeted deletion/duplication analysis¶Δ | 65 to 80% |
PCR: polymerase chain reaction.
* Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected.
¶ Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include a range of techniques such as quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.
Δ Chromosomal microarray analysis (CMA) may detect DMD deletions or duplications either as part of a contiguous gene deletion syndrome or as an incidental or unexpected intragenic finding. Given that the sensitivity of CMA is not sufficient to detect all exon-level DMD deletions and duplications, CMA is not recommended as a primary assay for dystrophinopathies.
