Table 5 Diagnostic yield of completed testsa (n = 2,685).

From: Outcomes of prior authorization requests for genetic testing in outpatient pediatric genetics clinics

Test category and specific tests

Tests with diagnostic result (n)

Tests completed (n)

Diagnostic yield (%)

Cytogenetic

162

1,449

11.2%

 CMA

135

1011

13.35%

 FMR1 repeat expansion analysis for fragile X

4

390

1.03%

Epigenetic

9

60

15.0%

Exomeb

128

413

31.0%

 Exome—proband only

7

35

20.0%

 Exome—duo

8

18

44.4%

 Exome—trio

113

360

31.4%

Mitochondrial

0

16

0.0%

Single-gene and multigene panel

223

747

29.9%

  1. CMA chromosomal microarray.
  2. aIncludes both tests that were approved during initial prior authorization request and after appeal.
  3. bDiagnostic yield did not significantly differ between proband and trio (p = 0.162), duo and proband (p = 0.061), or duo and trio (p = 0.247).
Back to article page