Table 3 Frequency and diagnostic yield of various molecular genetic testing methods in 56 patients with hereditary myopathies
From: Clinical and genetic evaluation of hereditary myopathies in an adult Saudi cohort
| Ā | Molecular genetic testing method | Total | |||||
|---|---|---|---|---|---|---|---|
WES | NGS-NM panel | Single-gene testing | DMPK repeat expansion analysis | Targeted analysis of D4Z4 repeat array units | WGS | ||
Number of tests performedĪ“ N (%) | 24 (39) | 19 (31) | 7 (11) | 8 (13) | 2 (3) | 1 (2) | 61 |
Pathogenic/ likely pathogenic variants, N (% of tested) | 11 (46) | 8 (42) | 7 (100) | NA | NA | 0 | 26 |
Pathogenic repeat expansions, N (% of tested)* | NA | NA | NA | 7 (88) | NA | NA | 7 |
Reduction of D4Z4 repeat array units, N (% of tested) | NA | NA | NA | NA | 2 (100) | NA | 2 |