Report of the overall diagnostic yield of GeneDx’s first 3,040 exome cases (28.8%). This study identified that analysis of trios significantly improves diagnostic yield compared to proband-only testing for genetically heterogeneous disorders.
Report of the overall diagnostic yield of GeneDx’s first 3,040 exome cases (28.8%). This study identified that analysis of trios significantly improves diagnostic yield compared to proband-only testing for genetically heterogeneous disorders.