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. 2023 Nov 22;45(4):1455–1464. doi: 10.1007/s10072-023-07210-z

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