Table 3.
Comparison of diagnostic yield of genetic tests in CMD and CM
| Author | n | Diagnostic yield % | ||||
|---|---|---|---|---|---|---|
| Traditional method | Exome | Genetic panels | Traditional method | Exome | Genetic panels | |
| Schofielda [28] | 26(56) | 44(56) | 42(56) | 46 | 79 | 75 |
| O’Gradyb [30] | 41(122) | 12(22) | 10(11) | 33.6 | 54 | 91 |
| Villc [29] | 31(56) | 8(12) | 23(44) | 55 | 67 | 52 |
The diagnostic yield of exome and genetic panels is higher than the traditional method for congenital muscular dystrophies and congenital myopathies. Diagnostic yield in Schofield’s study increased to 79%, assuming that patients diagnosed with CMA would also be diagnosed by genetic panels or WES. O’Grady’s study extends over a long period with patients widely evaluated, and genetic panels were done in 11 cases
aCongenital muscular dystrophies and congenital myopathies (CMD) study
bCongenital myopathies (CM) study
cEarly onset myopathies’ study