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Table 1 Molecular diagnostic rate and turnaround time by test type

From: Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

Exome type No. of cases No. of molecular diagnoses Diagnostic rate Mean TAT (range, weeks)
Prenatal trio 62 22 35% 2.0 (1.0–5.4)
Standard trio 33 7 21% 6.2 (1.9–11.1)
Proband 51 17 33% 12.6 (2.6–20.2)
Total 146 46 32%  
  1. The overall molecular diagnostic rate, considering all exome test types, is 32% (n = 46/146). The molecular diagnostic rates of each test type (prenatal trio, 35%; standard trio, 21%; proband, 33%) are not significantly different (p > 0.05, Fisher’s exact test). The mean turnaround time (TAT) for each test type is indicated and the range is indicated in parentheses