Table 1

Type of molecular testing for myotonic dystrophy in 287 cases originating from Wales

Referral sourceDiagnostic (symptomatic subjects)PresymptomaticPrenatalTotal
Positive FHNegative FHInconclusive FH
Clinical Geneticists73631724213
Paediatricians234339
Neurologists2205229
Others516
Total771226784287